Direct injury

Open globe injury

Some 29–47% of pediatric open globe injuries involve both the anterior and posterior segments of the eye.^35–37 Whereas the primary surgery includes external reconstruction of the globe, internal reconstruction can be performed simultaneously with the primary wound closure or, in most cases, in a second step.

The timing of secondary comprehensive anatomical internal reconstruction is crucial. Various authors have recommended a secondary vitreoretinal operation for internal reconstruction in the period between the 7th and 10th post-traumatic day in adults^38–40; others recommend 3–10 days after trauma.^39,41 The general rule is to delay comprehensive anatomical reconstruction of the seriously injured eye for approximately 1 week, when the risk of intraoperative hemorrhage is dramatically reduced and a separation of the posterior vitreous begins to develop.^38,39 Kuhn et al. recommend early vitrectomy within 3 days to prevent development of vitreoretinal proliferation.³⁹

Immediate intervention is however necessary, if signs of infection are recognizable or, in rare cases of retinal detachment, at the time of wound closure.

The value of a prophylactic encircling band in severe globe-opening injuries is controversial. There are no prospective studies documenting the advantage in children. In adults, the frequency of retinal detachment is less on the whole after applying an encircling band. An encircling buckle procedure is recommended in the presence of a corneoscleral or scleral wound >5 mm with ciliary body involvement with marked vitreous loss and vitreous hemorrhage.^42–44 Despite optimal follow-up, the functional results after combined pediatric anterior and posterior segment injuries are limited: about 12%³³ to 69%³⁷ of the children attain a visual acuity of 0.1 or better after primary wound closure and secondary surgery for reconstruction of the anterior and posterior segments.

In addition, children may develop more extensive postoperative inflammation, scarring, and severe proliferative vitreoretinopathy than adults, which may also affect the anatomical and functional outcomes.⁴⁵ The results after pediatric vitreoretinal surgery depend greatly on the extent and severity of the primary damage (Fig. 115.3). A wound size exceeding 10 mm, a lens lesion, and a patient age under 4 years are factors with unfavorable prognoses. Further negative influential factors include: severe intravitreal bleeding, poor initial vision, and gunshot injuries. Retinal detachment always correlates with significantly poorer results. Preoperative macular attachment is a crucial prognostic factor for attaining a postoperative vision better than 0.1.^46,47

Fig. 115.3 (A) Suture in a 12-year-old boy for a corneal perforation caused by a knife. (B) Vitreous hemorrhage and retinal dialysis were diagnosed in the posterior segment of the same eye. (C) Scarring and pigmentation at the exit site of the eye of a 13-year-old boy, who had sustained a perforating injury from a shotgun pellet (D) and was treated with a pars plana vitrectomy with silicone oil injection.

Traumatically ruptured globes occur rarely in children. Predisposition for rupture of pediatric eyes includes diseases associated with thin sclera, e.g., Ehlers–Danlos syndrome and osteogenesis imperfecta. Even fellow eyes should be treated, as enucleation can often be prevented.

Closed globe injury

Oradialysis

A common finding in closed injuries is an oradialysis. An oradialysis is located most often inferotemporally, which may only become symptomatic years after the trauma. In the absence of cataract, minimal vitreous haemorrhage or haze, treatment consists of a circumferential segmental buckle. The edge of the segmental buckle should exceed the edge of the dialysis by twice.⁴⁸ Anatomical reattachment was achieved in 67–88% of cases, whereas the rate of PVR was low.^49,50

Traumatic macular hole

Most traumatic macular holes result from closed-globe contusion injuries. Furthermore, the formation of a macular hole secondary to a penetrating injury has been documented in an 8-year-old boy.⁵¹

Traumatic macular holes may result from blunt trauma when it causes separation of the vitreous from the retina, contusion necrosis, or subfoveal hemorrhage. The cause of visual deterioration is necrosis resulting from contrecoup forces or tearing of the retina by a sudden separation of the posterior vitreous face.⁵² But others found that the posterior vitreous was detached from the macula in only 5% of eyes with traumatic macular holes.⁵³ They supported the theory that rupture of the macula caused by retinal stretching occurs as a result of either ocular deformity in the equatorial region or from the strong force of impact on the macula.⁵³ Small, full-thickness traumatic macular holes with a size of 0.1–0.2 disc diameter (DD), can resolve spontaneously in 64–100% of pediatric cases, 3–4 months following trauma, and this may be associated with good visual recovery, in most cases even 20/20.^54–56 In contrast to spontaneous closure of small macular holes (100–200 µm) closure of large holes (400–600 µm) has been rarely described (Fig. 115.4).⁵⁷

Fig. 115.4 (A) Full-thickness traumatic macular hole with a diameter of 450 µm in a 15-year-old boy. (B) The injury resolved spontaneously 5 weeks after trauma. (C) Fluorescein angiogram after spontaneous closure.

In preschool children, the timing of surgery should be based on the fact that traumatic macular holes may be amblyogenic. We therefore recommend vitreous surgery for the treatment of traumatic macular hole after 4 weeks. In elderly children, a period of observation of 3–4 months before vitreoretinal surgery is recommended.⁵⁵

Common features of patients with spontaneous closure of traumatic macular hole are young age (<25 years), small size of the macular hole (0.1–0.2 DD), no posterior vitreous detachment, and no epiretinal membrane.⁵⁵

Vitreous surgery for traumatic macular holes can lead to anatomic success in 92–100% and visual acuity improvement in 92–100% of pediatric patients.^51,55,58 Recent studies recommend surgical procedures including removal of the posterior hyaloid, the epiretinal membrane, and internal limiting membrane and expanding gas/air mixture tamponade.^55,58,59 Studies with adjunctive treatments have been published and describe the successful use of platelet concentrate,⁶⁰ and plasmin (0.4 IU of autologous plasmin) for enzyme-assisted pars plana vitrectomy.⁵⁸ In young patients, poor compliance with face-down positioning may be a factor in surgical failure. It is difficult for a child to maintain a face-down position postoperatively, therefore the use of silicone oil is advocated in children who need long-term intraocular tamponade after vitreoretinal surgery. However, additional surgery for silicone oil removal is necessary.

Vitreous hemorrhage

Differential diagnosis for intraocular hemorrhages in infants include trauma, X-chromosomal retinoschisis, Terson syndrome, shaken-baby syndrome, and Toxocara infection. Complications of infantile vitreous hemorrhage include epiretinal membrane formation, pigmentary retinopathy, strabismus, high anisometropic myopia, and occlusion amblyopia.¹⁰ These serious complications occur as early as 5 weeks after the onset of the vitreous hemorrhage. Vitrectomy is an acceptable early therapy for infantile vitreous hemorrhage, and we recommend that vitrectomy be considered as early as 3–4 weeks after the onset of a dense, infantile, vitreous hemorrhage in an attempt to avert serious complications of the hemorrhage.^12,61 Furthermore, early removal of severe vitreous blood clots and severe vitreous hemorrhaging is recommended for injured eyes. The tractional retinal detachment arises as a result of contracting epiretinal membranes. Vitrectomy reduces the incidence of these tractional retinal detachments in open-globe injuries.^38,62 The timing of vitrectomy for the removal of vitreous hemorrhage remains crucial. If retinal and/or choroidal involvement are not present, serial ultrasonography is necessary to detect complications. In individual cases, vitreous hemorrhage may absorb spontaneously, but because of the danger of amblyopia, vitrectomy may nevertheless be indicated.

Indirect injury

Terson syndrome

Terson syndrome is characterized by intraocular hemorrhage secondary to subarachnoidal or subdural hemorrhage. Vitreous hemorrhage in patients surviving subarachnoid hemorrhage appears to be more common than previously thought, underscoring the need for routine funduscopic screening. In the only published prospective case series of nonabuse instances of intracranial hemorrhage in children,⁶³ 2% had intraocular hemorrhages. The authors estimate the incidence of Terson syndrome in children with intracranial hemorrhage to be less than 8%. There is a low incidence of spontaneous intracranial hemorrhage in infants.

Three case reports of Terson syndrome in babies, from 5 weeks to 7 months old, due to a ruptured angiodysplasia or an aneurysma have been published.^64–66 The hemorrhages can occur within the sensory retina, in the subretinal space, and in the vitreous cavity. In approximately one-third of these eyes, a premacular accumulation of blood termed a “hemorrhagic macular cyst (HMC)” may be found.⁶⁷ Based on the blood’s relation to the ILM, two types of HMC can be distinguished in Terson syndrome. A HMC is preretinal if the blood is located anterior to all layers of the retina, and submembranous if the blood has accumulated beneath the ILM.⁶⁷ The anterior cyst wall may initially be formed by the posterior hyaloid face and later by proliferation. This newly formed membrane may present even if the blood has cleared from the cyst. Hemorrhagic macular cysts are more often submembranous than preretinal. At the vitreous base and in the equatorial zone, attachment plaques are present between the ILM and the Müller cells. Because attachment plaques are missing in the posterior zone, where the ILM is much thicker, a retinal hemorrhage is capable of detaching the ILM from the retina in that area. The presence of attachment plaques is considered in relation to centripetal vitreous traction, which is absent in the area of the posterior precortical vitreous pocket (PPVP). The posterior wall of the PPVP therefore probably coincides exactly with the thick part of the ILM in the posterior zone.⁶⁸ Most cases of vitreous and retinal hemorrhages in Terson syndrome do not require surgery because of spontaneous resorption. However, young individuals with a healthy vitreous gel may have delayed hemorrhage clearance, but babies and preschool-age infants can develop deep amblyopia within a few weeks. The formation of epiretinal membranes in severe cases is associated with the development of PVR. To prevent this complication, some authors advocate close follow-up and early, extensive treatment in Terson syndrome.⁶⁹ Complete cyst removal should be performed, i.e., including contents and anterior wall, to prevent blood-related complications and to allow early rehabilitation of macular function (Fig. 115.5).⁶⁷

Fig. 115.5 (A) Submembranous hemorrhagic macular cyst (HMC) seen in a 6-year-old child suffering from Terson syndrome caused by a subdural hemorrhage; the striae show stress on the internal limiting membrane. (B) Postoperatively the fundus showed a perimacular light line corresponding to the edge of the HMC.

If a pars plana vitrectomy is performed, the possibility of a hydraulically dissected ILM has to be considered. Postoperatively, perimacular retinal folds or fibrotic lines may occur.⁷⁰ Indications for vitrectomy therefore include: dense vitreous hemorrhage, bilateral hemorrhage, premacular HMC and/or dense vitreous hemorrhage if spontaneous resorption has failed after 4 weeks, development of esotropia, and/or PVR. Whereas the prognosis of vitrectomy for Terson syndrome is excellent in adults, it remains relatively poor in visually immature children. Amblyopia, despite early intervention, and permanent brain damage are potentially responsible for this limited visual outcome. We recommend surgical intervention, management of amblyopia, correction of refractive errors, and intensive orthoptic treatment.

Spontaneous Terson syndrome is one of the differential diagnoses for intraocular hemorrhages in infants with suspected abusive head trauma. Distinguishing characteristics are the mild severity and confinement of retinal findings to the posterior pole in spontaneous Terson syndrome, which are in contrast to the usually severe, multilayered intraocular hemorrhages extending to the retinal periphery in abusive head trauma.

Shaken-baby syndrome

In shaken-baby syndrome, retinal hemorrhages are the most common fundus finding, and dome-shaped hemorrhages are the most distinctive form of hemorrhage (Fig. 115.6). The dome-shaped hemorrhages are most often seen in the macular area, but can be found in any area of the retina on histopathologic examination. They can be caused by separation of the ILM or a more vision-threatening deep retinoschisis. Recent studies have shown, hand-held spectral domain optical coherence tomography is helpful in the evaluation of patients with shaken-baby syndrome to detect vitreoretinal abnormalities, e.g., multilayered retinoschisis, disinsertion of the internal limiting membrane and foveal detachment in these eyes.^71,72 In some cases, the blood breaks through the ILM and/or hyaloid face and causes a vitreous hemorrhage. This can occur immediately after injury or a few days after the cerebrovascular accident from rupture of the ILM over a dome-shaped hemorrhage.

Fig. 115.6 (A) Typical appearance of a fresh submembranous hemorrhagic macular cyst (HMC) seen in shaken-baby syndrome in an 8-month-old baby. (B) Fundus photograph after removing of the anterior cyst wall of the HMC. (C) Noncontrast computer tomogram of the 8-month-old baby shows a massive hemorrhage due to abusive head trauma. (D) On follow-up 2 weeks later, he was able to fix and follow with both eyes.

In addition to extensive retinal and preretinal hemorrhages, bilateral symmetric white ring-shaped retinal folds are seen encircling the macula outside the vascular arcades. These retinal folds may be a hallmark of shaking injuries in child-abuse victims.⁷³ Short-term follow-up is necessary with large dome-shaped hemorrhages because they can induce severe amblyopia by themselves or can break into the vitreous and linger for months in these visually immature patients. We recommend vitrectomy for large premacular hemorrhage and/or after absence of vitreous hemorrhage clearing after 4 weeks. If esotropia develops, vitrectomy should be performed immediately. During vitrectomy, the hyaloid is peeled, and the membrane covering the macula is completely removed, i.e., the ILM is ruptured: following careful incision of the anterior wall of the HMC with a bent microvitreoretinal blade in a selected macular quadrant, the flap is grasped by end-gripping forceps, and the membrane is slowly torn in a motion respecting the visible edge of the HMC. In most eyes, this is a nearly circular motion concentric to the fovea. Vitreous surgery for HMC leads to excellent anatomic success,⁷⁰ and it offers immediate visual rehabilitation.

All maculae show retinal folds or demarcation lines postoperatively. These correspond to the edge of the HMC, i.e., the edge of the hemorrhagic detachment of the ILM.

Myopia

Myopia is one of the important predisposing factors of nontraumatic rhegmatogenous retinal detachment in childhood.⁷⁴ In east Asia, about 40% of children younger than 18 years who underwent surgery for retinal detachment suffered from high myopia (>−6 diopters).⁷⁵ due to the significant differences in the refractive error prevalences as a function of ethnicity, the rate of myopic non-Asian children, whom develop a retinal detachment in the first two decades of life, is described to be 11–28%.⁷⁶ According to the results of the scleral buckling versus primary vitrectomy in rhegmatogenous retinal detachment study (SPR-study),⁷⁷ in pediatric almost phakic eyes, primary treatment should be performed by a scleral buckling procedure. Primary vitrectomy is reserved for posterior tears, severe PVR, or for cases with obscured ocular media. The value of an additional encircling buckle is controversial, we recommend it for eyes with PVR.

In a study⁷⁸ of highly myopic children <10 years of age, the authors found retinal holes in 4%; lattice degeneration in 20%, and white-without-pressure in 11% of the eyes. The authors recommend performing laser photocoagulation of retinal holes and prophylactic laser photocoagulation of lattice degenerations because children are less likely to report symptoms, thus delaying diagnosis and treatment of retinal detachment.⁷⁸ Prophylactic laser photocoagulation remains a controversial issue; to date the database on prophylactic treatment in children is lacking.

Subfoveal membranes

Choroidal neovascularization membranes (CNVMs) in children are rare. The cause of the CNVM is presumed to be an ocular histoplasmosis syndrome, idiopathic, optic nerve coloboma and drusen, ocular toxoplasmosis, Toxocara canis, rubella retinopathy, serpiginous choroidopathy, trauma, degenerative myopia, and Best disease. The treatment of CNVM is a controversial topic and the natural history of idiopathic CNVM is not necessarily associated with a profound loss of vision.⁷⁹ Photodynamic therapy is impractical in babies and infants, and surgical excision might have visually threatening risks. Worsening of visual acuity, protracted neurosensory detachment with the development of cystoid macular edema, or subfoveal hemorrhage may be factors that make treatment of CNVM by intravitreal anti-VEGF a favorable option. Various authors reported children (aged 19 months to 15 years) with CNVM that regressed with documented improvement in visual acuity following treatment with intravitreal anti-VEGF.^80–83 Some authors used bevacizumab in a dose of 1.25 mg/0.05 mL,^80,82,83 others used ranibizumab, in a dose of 0.25 mg/0.025 mL to 0.5 mg/0.05 mL^81,83 or 0.3 mg/0.09 mL of Pegaptanib.⁸³ Most patients required 2–5 injections of the anti-VEGF agent. No ocular or systemic adverse events were observed in any of our treated patients.

Coats disease

Coats disease is characterized by exudative retinitis and telangiectasias of the retina.⁸⁴ Usually (95%) only one eye is affected, and the etiology is unknown.⁸⁵

The main goal of treatment of Coats disease should be to eradicate the telangiectasias by laser photocoagulation or cryocoagulation. If telangiectasias are associated with retinal detachment, cryotherapy alone can be performed to destroy vascular abnormalities. The preferred method of cryotherapy is a double freeze-thaw technique applied directly to the telangiectasias. But excessive cryotherapy can induce an increase in the extent of retinal detachment. Therefore, diffuse telangiectasias involve all quadrants, it is advisable to initially treat two quadrants only and the other quadrants 4 weeks later. A second treatment of the same area should be withheld for 3 months, because resolution of exudation is very slow process.⁸⁶

A classification of Coats disease has been proposed by Jerry and Carol Shields.⁸⁵ Stage 1 is characterized by telangiectasia only and can be managed by either periodic observation or laser photocoagulation. In stage 1 disease, there is a high probability that the eye can be salvaged, and the visual prognosis is usually favorable. Stage 2 is characterized by telangiectasia and exudation, and is generally best managed with cryotherapy or laser photocoagulation. If the exudation is limited to one quadrant or located nasally, a reasonably good visual outcome can be anticipated. In stage 2A, the fovea is not involved by exudation, and the visual prognosis is generally good. Eyes with stage 2B shows foveal exudation. A dense yellow-gray nodule, a macular fibrosis, centered within the foveal exudation is usually associated with a worse visual outcome.⁸⁷ Stage 3A disease (subtotal retinal detachment) is generally managed by laser photocoagulation or more effectively in most cases by cryotherapy. Even if the retinal detachment involves the fovea, it will resolve when the peripheral telangiectasias are eradicated (Fig. 115.7). Stage 3B disease (total retinal detachment) can be managed with cryotherapy if the detachment is shallow, but pars plana vitrectomy may be required if the retina is immediately posterior to the lens. Stage 4 disease (total retinal detachment with glaucoma) is often best managed by enucleation to relieve severe ocular pain. In some instances, attempts to control the glaucoma medically may be undertaken. Stage 5 disease is defined as a blind, nonpainful eye with a total retinal detachment, often with cataract and phthisis These patients require no aggressive treatment.⁸⁵

Fig. 115.7 (A) Fundus photograph of a 5-year-old boy with Coats disease shows massive lipid exudation and retinal detachment inferiorly (Stage 3A). (B) The retinal telangiectasias usually are located in the peripheral retina, most often between the equator and ora serrata inferotemporally. (C) Three years after 3× cryocoagulation of the peripheral telangiectasias, there is a complete resolution of the exudates and development of typical macular fibrosis and peripheral scars with surrounding pigment changes.

Recent studies have shown that Coats disease is associated with an increased intraocular VEGF level, and therefore intravitreal anti-VEGF injection may be a valuable adjunctive treatment for pediatric Coats disease. Since sole therapy with intravitreal bevacizumab may not be effective, combining it with laser photocoagulation or cryotherapy may be a viable option for managing Coats disease, reducing leakage, and preventing neovascular complications.^82,88 The optimal time period between injection and coagulation treatment is unclear. The employed dosage for bevacizumab was 1.25 mg/0.05 mL (14–17 years old)^88–90 to 2.5 mg/0.1 mL (6 months to 12 years old ).⁹¹ All patients received one to three injections and no side-effects were observed.

It is paramount that ophthalmologists maintain a high clinical suspicion for the possibility of retinoblastoma before performing an injection that could spread tumor cells to the subconjunctival space and orbit.^85,92 Unless the retina and the abnormal telangiectatic vessels found in Coats disease can be examined by indirect ophthalmoscopy, no injection should be performed, even with the absence of calcification on B-scan. Furthermore, a diffuse infiltrating retinoblastoma and advanced Coats disease can be indistinguishable from each other on magnetic resonance imaging. Therefore, enucleation must be performed in patients with poor visual potential and when it is impossible to rule out the possibility of retinoblastoma.⁹³

Hereditary vitreoretinopathies

Stickler syndrome

Hereditary vitreoretinopathies are potentially blinding disorders characterized by an abnormal-appearing vitreous gel with associated retinal changes. Stickler et al.^94,95 described an autosomal dominant disorder with characteristic ophthalmological and systemic abnormalities, orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia, which is congenital and nonprogressive, and cataract (Fig. 115.8). Nonocular features show great variation in expression. Stickler syndrome type 1 (STL1) arises due to mutations in COL2A1 gene and shows membranous vitreous phenotype, while type 2 (STL2) disease arises from mutations in COL11A1 and affected patients have a fibrillar appearance of the vitreous.⁹⁶ Only patients with STL1 or STL2 show ocular changes, whereas STL3 patients do not suffer eye problems. The majority of patients have STL1. Retinal features of Stickler syndrome are radial perivascular pigmented retinal degenerations, lattice degeneration, anterior giant retinal tears, and posterior retinal tears. The first retinal detachment (RD) is observed between the ages of 10 and 30 years; 8% of affected children have RD between 0–9 years, and 26% between the ages of 10 and 19 years.^95,97

Fig. 115.8 (A) Type 1 vitreous gel anomaly in an 11-year-old girl with Stickler syndrome; within 9 months the patient developed retinal detachment in both eyes. (B) The child suffered from sensorineural hearing deficit and high myopia and at birth showed a midline cleft of the hard and soft palate.

With a high rate of bilateral spontaneous retinal detachment, “unaffected” family members without retinal detachment or other associated symptoms of Stickler syndrome should be approached and offered molecular genetic analysis to rule out the presence and type of Stickler syndrome, and should be examined regularly.⁹⁸

Positive effects of prophylactic intervention is have been described.^99,100 In a recent systematic review,⁹⁸ two principal retrospective cohort studies with control groups in populations with STL1 were analyzed. One study evaluated 360° cryotherapy (n = 204) on the post-oral retina and reported a statistically significant lower rate in the treatment group compared with the untreated STL1 group (n = 22). Leiba et al.¹⁰⁰ performed a subgroup analysis based on age and reported that 0/6 eyes treated prophylactically by laser coagulation (circumferential treatment for eyes with extensive contiguous retinal lesions where lesions were present in at least three quadrants; focal laser treatment for eyes with small localized lesions of lattice degeneration or isolated breaks) in children aged ≤13 years detached compared with 1/4 eyes treated prophylactically in children aged ≥13 years. In the control group, which did not receive any prophylaxis, the retina detached in 46% eyes of children aged ≤13 years, but detached in 60% in adolescents and adults aged ≥13 years in the follow-up of 1–15 years. However, both studies were subject to a high risk of bias and the optimal age for prophylaxis is uncertain.⁹⁸

Despite complicated surgery and often multiple procedures, Stickler patients undergoing primary vitrectomy for rhegmatogenous detachment shows good anatomical outcomes as well as useful functional visual results in comparison to outcomes of buckling. Vitrectomy may be considered as the operation of choice in the Stickler group.⁹⁷ Almost three-quarters of re-detachments occur within the first 4 postoperative months. Complications are predominantly re-detachment and subsequently multiple surgeries. As such, the use of primary vitrectomy to improve the primary success rate is also likely to reduce the overall complication rate.

Kniest dysplasia

Kniest dysplasia is an autosomal dominant disorder characterized by kyphoscoliosis, severe short trunked dwarfism, cleft palate, flat face, hearing defects, and joint contractures.^101,102 Patients with Kniest dysplasia have severe congenital myopia and vitreoretinal degeneration. The vitreous cavity contains fibrous, clouded, membranous structures floating in the retrolental space (Fig. 115.9). Other eyes have cortical and posterior subcapsular opacity of the lens, and also veil-like vitreous opacities in the periphery. The common retinal changes include perivascular lattice degeneration and white-without-pressure of various degrees. Bullous retinal detachment with Kniest dysplasia can be treated successfully, especially by vitreous surgery with silicone oil tamponade.¹⁰³

Fig. 115.9 (A,D) A 7-year-old girl with Kniest syndrome presented with a bilateral retinal detachment in both eyes. (C) The patient has characteristic severe short-trunked dwarfism, kyphoscoliosis, flat face, joint contractures, and sensorineural hearing defect; she is not able to walk and uses the vehicle for transport. (B,E) After cerclage, vitrectomy, and silicone oil tamponade the retinas were reattached.

Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a bilateral disorder of aberrant peripheral retinal development, including peripheral avascular retina, abnormal vascularization with retinal neovascularization, subretinal exudation, formation of an abnormal vitreoretinal interface, and retinal detachment (Fig. 115.10). The phenotype of FEVR resembles a form fruste of ROP, occurring in a larger and often term infant. Aberrant vasculogenesis and subsequent abnormal angiogenesis are thought to cause the vitreoretinal abnormalities in FEVR.¹⁰⁴ FEVR patients have a mutation in the Norrie disease gene. This results in dysregulation of the Wnt-receptor: ß-catenin pathway and has been associated with increased levels of vascular endothelial growth factor (VEGF). These can potentially explain the lifelong chronic nature of FEVR, which is characterized by exacerbations in exudation secondary to upregulated vascular activity. The clinical classification is based on five stages.¹⁰⁵

Fig. 115.10 Familial exudative vitreoretinopathy in a young girl. (A) V-shaped area of avascular retinal periphery with extraretinal vascularization in stage 2. (B) The fundus of the same patient after photocoagulation. (C) Familial exudative vitreoretinopathy with tractional retinal detachment involving the fovea and with subretinal exudates (stage 4) was subjected to pars plana vitrectomy, laser coagulation and silicone oil injection (D).

Systemic associations are absent. The management of FEVR is similar to that for ROP: in the early stages, peripheral coagulation by laser or cryocoagulation of the avascular retinal periphery is used to reduce subretinal and intraretinal exudation. Anti-VEGF therapy may provide a valuable adjunctive treatment for FEVR. In one study,¹⁰⁶ three children (6–14 years), with persistent vascular activity and increasing exudation, despite aggressive laser photocoagulation and cryocoagulation, were successfully treated by intravitreal injection of pegaptanib sodium (Macugen; 0.3 mg/90 µL). All patients showed a reduction of exudation, but two children developed vitreous hemorrhage due to tractional retinal detachment and needed pars plana vitrectomy. After injection of bevacizumab (Avastin; 1.25 mg/0.05 mL) in an adult patient, rapid regression and accelerated fibrosis of neovascular tissues was observed.¹⁰⁷ In traction retinal detachment vitreoretinal surgery is indicated to release vitreous traction by either scleral buckling or vitrectomy. The vitreoretinal adhesions are so strong in the peripheral avascular area that iatrogenic retinal breaks occur easily. A bimanual technique with vitreous scissors and forceps is preferred to dissect the vitreous membranes from the retinal surface. Dissection of the vitreous in the peripheral avascular area is very difficult, and if this procedure cannot successfully be performed, the prognosis is poor.^105,108 If an eye is symptomatic in the first 3 years of life, the prognosis is poor. Despite laser photocoagulation of the peripheral avascular retina, most of these eyes develop tractional retinal detachment. Vitreoretinal surgery can preserve some degree of vision in FEVR patients but amblyopia, reproliferation, and vitreous hemorrhage may limit long-term visual improvement.¹⁰⁹ The ultimate goal of prophylactic laser treatment in FEVR is the prevention of retinal detachment or secondary macular exudate.

Marfan syndrome

Retinal detachment is the most serious eye complication, occurring in 10–25% of patients with Marfan syndrome. A total of 75% of retinal detachments occur before patients are 20 years old.¹¹⁰ Retinal detachment in Marfan syndrome is bilateral in about one-third of cases. Most Marfan syndrome patients with retinal detachment have a dislocated lens or have undergone previous lens surgery.¹¹¹ These patients should, therefore be checked especially carefully.

Retinal detachment surgery can be complicated by insufficient pupil dilation, possible ectopia lentis, and multiple retinal breaks.¹¹² The edge of the clear or cataractous subluxated lens hampers evaluation of the peripheral fundus.

Primary scleral buckling is recommended if the clear lens is in proper position; if the clear subluxated lens is not interfering with visualization of fundus details, or if the retinal breaks are located near or anterior to the equator. The placement of scleral sutures for buckling is challenging due to the thin and collapsible sclera.

Vitreous surgery should be considered in the following situations: failed scleral buckling; proliferative vitreoretinopathy; a posteriorly dislocated lens; a subluxated or cataractous lens not allowing an adequate evaluation of the fundus periphery, and giant retinal tears.¹¹³ Due to the thin sclera, the use of trochars should be avoided.

The results of surgery vary depending on the nature of the retinal tear and the presence of PVR. Generally, the results are comparable with those patients without Marfan syndrome and successful reattachment of the retina is achieved in 86%¹¹³ to 100%.¹¹² But poorer visual outcome is likely to be encountered when there is concomitant lens dislocation or a history of intraocular surgery.¹¹² The increased incidence of high myopia and peripheral lattice degeneration predisposes these eyes to retinal breaks. The high bilateral rate of retinal detachment may justify prophylactic laser treatment of lattice degenerations the fellow eye of these patients.^111,112

Congenital X-linked retinoschisis

Congenital X-linked retinoschisis (CX-LRS) is an inherited retinal disease characterized by abnormal Müller’s cell pillars that allow schisis cavities to form. In 98–100% of the cases, these cavities in the foveal area, and the peripheral retinoschisis, usually inferotemporal, is present in about 50% of cases and is associated with severe vision-threatening complications, such as vitreous hemorrhage and retinal detachment. Visual function is often stable from childhood until age 40s, when deterioration occurs. The most severe disease form, which manifests as bullous, peripheral retinoschisis cavities, occurs primarily in patients younger than 10 years. The age of onset follows a bimodal distribution with one group of patients presenting in infancy with strabismus and nystagmus and a second group with poor vision and reading difficulties presenting at school age.¹¹⁴ There are a few case reports on children suffering from retinoschisis in the first year of life. In a series of five children who presented in the first 18 months of life, highly elevated bullous retinoschisis involving the macula was observed. In 9 of 10 eyes of these patients, the bullous retinoschisis cavity flattened, leaving only pigment demarcation lines within an observation time of 1–6.5 years.¹¹⁵ Surgical intervention for congenital retinoschisis is recommended under certain clinical conditions: rapid progression of the peripheral schisis cavity involving or threatening the macula, obscuration of the macula by the overhanging inner wall of a schisis cavity, dense nonclearing vitreous hemorrhage with a large schisis cavity hemorrhage, schisis combined with rhegmatogenous retinal detachment, and schisis combined with tractional retinal detachment, and macular pucker.³¹ Prenner et al.¹¹⁶ developed a new classification system for CX-LRS based on an improved understanding of the underlying pathologic lesion, and identified better surgical approach (Table 115.6).

Recent studies advocate vitrectomy for a bullous schisis cavity with or without hemorrhage in children with successful surgically induced posterior vitreous detachment.^31,117,118 García-Arumí et al.¹¹⁷ performed posterior hyaloid dissection after injection of 0.05 mL of diluted preservative-free triamcinolone acetonide in an 8-month old child. Trese³² describe the adjuvant use of autologous plasmin for hyaloid separation. In pediatric eyes is it very difficult to mechanically achieve a complete posterior vitreous detachment. In most cases, the only way to relieve the vitreous traction is to remove the inner wall of the retinoschisis, since there is no effective way to remove the posterior cortical vitreous in children.^119,120 Because the area of retinoschisis corresponds to an absolute scotoma on the visual field, removing the inner wall of retinoschisis has no effect on the patient’s visual field,¹¹⁹ but it results in loss of retinal ganglion cells and interneurons, eliminating any chance for future schisis cavity adhesion. Furthermore, eyes that undergo inner-wall retinotomy are prone to proliferation along the anterior leaflet of the schisis. Trese recommends the application of autologous plasmin, since this method eliminates the need for inner-wall retinectomy in up to 82% of eyes.³² They only performed inner-wall retinectomy on eyes with type 4 CX-LRS. Incision into the inner wall of the schisis cavity should be performed 2–3 mm anterior to the posterior border of the schisis cavity, some authors describe fluid drainage by use of a 42G cannula.¹¹⁷ Photocoagulation should applied to the border of the attached retina and the schisis cavity to prevent the progression of retinal splitting. Gas or silicone can be used for postoperative tamponade. Silicone oil is particularly recommended for younger children.

Authors described postoperative retinal reattachment in the pediatric eyes, but the functional results, however, are limited, the visual acuity improved in only 53% of cases, best reported postoperative visual acuity was 20/50 attained by a 6-year-old child.^117,120 In a current series of cases, the main indication for unilateral vitrectomy in a 7 year old and bilaterally in a 17-year-old was foveal retinoschisis, which was associated with peripheral retinoschisis or peripheral inner holes. The vitreous surgery consisted of core vitrectomy, surgically induced posterior vitreous detachment, removal of the internal limiting membrane, and a 30% sulfur hexafluoride gas tamponade. The follow-up periods ranged from 6 months to 12 years. Restoration of the foveal depression with flattening of the schisis cavity was achieved in the first surgery in all three eyes. The visual acuity improved in all three cases. The anatomical result was normal foveal configuration with small cystoids spaces in the retina layer, but negative b-waves persisted in the affected eyes even 3 years after clinical resolution of the retinoschisis due to the inability of the intraretinal nerve fibers to reconnect despite repositioning of the retinoschisis.¹¹⁸

Rhegmatogenous retinal detachment in retinoschisis occurs if outer- and inner-wall holes develop in an area of peripheral schisis develop. The surgical principle is to coagulate outer-wall breaks and perform scleral buckling, if the location and size of the outer-wall breaks allow for support along the element. The advantage of scleral buckling is that it is less invasive than vitrectomy and provides support to the vitreous base. If scleral buckling fails, vitrectomy is recommended because it allows to improved treatment of the outer-wall break with laser after internal drainage and flattening the retina.³¹ Further indication for vitrectomy is tractional retinal detachment. In such cases, a combination of primary scleral buckling and vitrectomy is recommended. The surgical approach is scleral buckling for retinal detachment, particularly in the absence PVR and, the outer wall holes are located anterior to the equator, and vitrectomy for vitreous hemorrhage or PVR. PVR is the major reason for reoperation. However, multiple operations and the use of advanced vitreoretinal techniques to manage PVR-related complications are necessary for ultimate success in certain cases.¹²¹

Knobloch syndrome

Knobloch syndrome is a recessive syndrome of hereditary vitreoretinal degeneration with retinal detachment, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate.¹²² There is also a defect of the anterior midline scalp with involvement of the frontal bone. The presence of a congenital midline scalp defect should alert the clinician to possible underlying central nervous system and/or ocular pathology and should lead to consideration of further diagnostic evaluations and prophylactic measures. It is reported that fellow eyes should be treated with prophylactic retinal cryotherapy, but new reports are not available.^123,124

Incontinentia pigmenti

Incontinentia pigmenti is a rare, X-linked, dominant disorder in which affected female infants develop characteristic abnormalities of the skin, central nervous system, hair, teeth, and eyes. Ocular abnormalities occur in about 35% of patients¹²⁵ and consist of nystagmus, strabismus, microphthalmos, ptosis, blue sclera, pigmentation of the conjunctiva, corneal changes, cataract, optic atrophy, vitreous haemorrhage, myopia, and in 11.5% of cases, fibroblastic retinal detachment secondary to ischemic vasculopathy similar in appearance to retinopathy of prematurity. Fluorescein angiography indicates profound peripheral retinal ischemia, and abnormal arteriovenous connections in these eyes. The affected eyes develop neovascularizations, followed by preretinal fibrotic tissue at the temporal equator, and in a late stage, an extensive fibrovascular tissue pulls the retina anteriorly behind the lens. It seems likely that most retinal detachments occur within the first year of life, and all retinal detachments occur within the first 3 years of life. Most of the ocular abnormalities are unilateral, in those with bilateral involvement; one eye is usually less affected. Patients with NEMO mutation may have an increased risk of retinal pathology.¹²⁶ For affected babies retinal screening should be performed under anesthesia as soon as possible after birth, and fluorescein angiography should be performed, when areas of avascular peripheral retina are noted by indirect ophthalmoscopy. Therapeutic intervention with indirect laser photocoagulation to the peripheral ischemic retina should be performed as soon as the diagnosis is made, some authors describe successfully resolution of the vasculopathy after early laser photocoagulation.¹²⁷ Today, the intravitreal injection of anti-VEGF could be a further adjunctive treatment option. Five days after of intravitreal injection of 1.25 mg/0.05 mL bevacizumab in an 11-month-old boy, extensive neovascularization transformed into sclerotic ghost vessels, and vitrectomy was facilitated.¹²⁸

Norrie disease

Norrie disease is a bilateral X-linked recessive syndrome of ocular dysgenesis with progressive auditory and mental impairment. Norrie disease is believed to result from mutations in the 28-kb Norrie disease protein (NDP) gene, located on chromosome Xp11.3. The disease is characterized by a retinal falciform fold, retinal detachment, repeated vitreous hemorrhage, retrolental membrane formation, and finally clinical progression from these early retinal and vitreous changes to the more typical retrolental vascularized detached retina. Most surgical interventions have been disappointing.¹²⁹ Only one successful vitrectomy of a 15-month-old child has been described.¹³⁰ Chow et al. reported the first case of prophylactic laser treatment in a patient who was diagnosed with Norrie disease by genetic testing with amniocentesis at week 23 of gestation; 1 day postpartum laser photocoagulation was applied to the avascular retina bilaterally. Complete regression of extraretinal fibrovascular proliferation was observed 1 month after laser treatment. No retinal detachment had occurred at 24 months. Teller visual acuity at 23 months of life was 20/100 in both eyes. The patient’s vision and developmental milestones were age appropriate.¹³¹

Anomalies of the papilla

Morning-glory disc anomaly is a descriptive classification for a characteristic lesion of the optic nerve that is often associated with serous retinal detachment. Systemic associations are present in some patients. A wide range of posterior segment abnormalities can be observed. Mild optic disc dysplasia or pit formation has no functional consequences and is underdiagnosed. More severe colobomas or related abnormalities, such as the morning-glory anomaly, often lead to poor visual acuity. Molecular biology allows detection of the mutations in the PAX2 gene in approximately 50% of cases. The observation of an optic disc coloboma or related abnormality must stimulate nephrologic investigations to check for renal hypoplasia, a potentially life-threatening disease.^131a Nonrhegmatogenous retinal detachment occurs in one-third of cases. Detachment may be limited to the peripapillary retina or be extensive. Retinal detachment is usually seen after the first year of life. The benefit of vitreous surgery with drainage of subretinal fluid, gas tamponade, or silicone oil, and peripapillary photocoagulation has been established.

Congenital pits of the optic nerve vary in size, shape, depth, and location. They often appear as small, hypopigmented, yellow or whitish, oval or round excavated defects, most often within the inferior temporal portion of the optic cup. They are bilateral in 15% of patients, covered or filled with a veil of tissue. Some 40–60% of patients with optic pits develop nonrhegmatogenous serous macular detachments (Fig. 115.11A,B). These fluid-filled cystic maculopathies can develop into lamellar macular holes. There are four etiologic theories: (1) vitreous fluid by way of the pit or a macular hole; (2) leakage from vessels within the pit; (3) fluid from the orbital space surrounding the dura; and (4) cerebrospinal fluid originating from the subarachnoid space.¹³² A tear in the diaphanous tissue overlying the optic nerve pit may be responsible for the development of serous macular detachment¹³³; this is consistent with findings in similar conditions, such as retinal detachment, in association with chorioretinal coloboma. These tears may be quite subtle, and careful biomicroscopic examination is required to appreciate them. Initially, conservative management is recommended, as 25% of optic disc pit maculopathies resolve spontaneously.¹³² The value of laser photocoagulation along the temporal disc margin is not very convincing, since even worse retinal detachments or re-detachments were observed.¹³²

Fig. 115.11 (A) Fundus photograph of a 16-year-old girl with congenital pit of the optic nerve and serous macular detachment. (B) The optical coherence tomography demonstrates the retinal detachment. (C) Retinal detachment in the right eye of a 13-year-old girl with choroidal coloboma; it was treated by vitrectomy, cerclage, endolaser coagulation and silicone oil tamponade. (D) Two years after silicone oil removal, the eye shows retinal stability, a laser barrier after gentle laser coagulation seals the junction between the intercalary membrane and extra colobomatous retina.

In a recent review of results of vitreoretinal surgery for treatment of an optic pit maculopathy the most widely accepted treatment for both adult patients and children is a pars plana vitrectomy with or without ILM peeling, with or without endolaser photocoagulation and C₃F₈ endotamponade.¹³²

There are several case reports on successfully performed vitrectomies with and without ILM-peeling in children aged 7–9 years old.^134–136 The removal of the posterior hyaloid face from the macula is an essential element of successful treatment, but may be difficult to achieve in pediatric eyes. Georgalas et al.¹³⁷ reported that surgical PVD seemed impossible in the case of a 5-year-old boy with optic disc pit maculopathy, and therefore the posterior vitreous was peeled off from the macular area within the retinal arcades and air was used as an endotamponade. Some authors^135,138 performed laser photocoagulation in the peripapillary area during vitrectomy, but others¹³⁷ did not recommend laser photocoagulation: first to avoid any adverse effects of the laser treatment in the papillomacular region and, second, because the rationale for inhibition of fluid transportation within the inner retinal layers of the macula through laser photocoagulation was weak.

Jalil et al.¹³⁹ have suggested an alternative approach with induction of a posterior vitreous detachment and internal limiting membrane peeling. A 42G subretinal cannula was connected to a “backflush” flute handle and introduced into the subretinal space temporal to the fovea within the subretinal fluid cavity. No retinopexy was performed at the site of the subretinal fluid drainage and the retina remained attached with gas tamponade.

Migration of gas or silicone oil into the subretinal space has been reported.¹⁴⁰ Furthermore, intracranial migration of silicone oil after vitreoretinal surgery for the treatment of optic disc maculopathy was described.¹⁴¹ Therefore, if possible, a gas tamponade should preferably be used.

Coloboma

Coloboma of the fundus is a congenital defect caused by the faulty closure of the embryonal fissure. It occurs in 0.14% of the general population.¹⁴² The literature quotes a 40% occurrence of retinal detachment in these patients, typically in the second decade of life.¹⁴³ Near the margin of the coloboma, the retina splits into two layers.¹⁴⁴ The inner layer continues as an intercalary membrane on to the coloboma, while the outer layer turns back, becomes disorganized, and fuses with the retinal pigment epithelium. The choroid is terminated as a distinct pigmented layer peripheral to this point of reversal. The split in the retinal layer has been identified at the level of inner nuclear layer or outer plexiform layer, or both. The junction where this reversal occurs is a locus minoris resistentiae. The intercalary membrane progressively becomes thinner as it is traced centrally. Breaks can occur at the junction and in the intercalary membrane. Peripheral retinal breaks are also observed. The preferred technique for treatment of retinal detachment associated with choroidal coloboma is vitrectomy with either long-acting gas or oil tamponade. The use of silicone oil has the advantage of being a long-term tamponade of the whole colobomatous border.

Breaks in the intercalary membrane can be identified pre- or intraoperatively, whereas the breaks at the locus minoris resistentiae are not identifiable but can be expected to be located along the coloboma border. Treatment of the pigmented fundus just beyond the coloboma with laser should close these breaks and eliminates the need to close the breaks in the intercalary membrane. The diode laser is preferred to the argon laser because it is less likely to damage the nerve fiber layer. Tansu et al. recommend endolaser barrier of three to four rows along the border of the coloboma. Near the optic disc and papillomacular bundle, we perform a gentle endolaser coagulation as consistent with other authors.¹⁴⁶ If adequate chorioretinal adhesion can be achieved around the coloboma, laser of the papillomacular bundle and optic disc may not be necessary (Fig. 115.11C,D).¹⁴⁵ After vitrectomy and silicone oil removal, optical coherence tomography showed persistent detachment of the intercalary membrane in most patients. These findings emphasize the importance of sealing the junction between the intercalary membrane and extra colobomatous retina with a laser barrier.¹⁴⁶

The placement of an encircling band is done on a purely empirical basis. Several authors observed no difference in the outcome between the buckled and nonbuckled eyes. Peripheral laser photocoagulation along the ora serrata reduces the risk of recurrent retinal detachment after silicone oil removal.^143,145

Persistent hyperplastic primary vitreous

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a congenital anomaly of the eye that results from failure of the embryological, primary vitreous, and the hyaloid vasculature to regress. It typically presents unilaterally, without associated systemic findings in normal full-term infants. In rare cases, bilateral PHPV has also been described.¹⁴⁷ Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.¹⁴⁸ PHPV is subclassified into three types: (1) most often an anterior PHPV (retrolental fibrovascular membrane, elongated ciliary processes, cataract, microphthalmia); (2) posterior PHPV (vitreous membrane and stalk, retinal fold, traction retinal detachment, hypoplastic optic nerve and macula, microphthalmia); (3) a combination of anterior and posterior PHPV (Fig. 115.12). Without surgery, most eyes with PHPV will develop severe glaucoma, retinal detachment, intraocular hemorrhage, and/or phthisis early in life. If left untreated, enucleation may become necessary. To prevent these complications, many authors recommend vitreoretinal surgery without delay if light perception is present, especially in rare cases of bilateral PHPV.¹⁴⁹ But in eyes with severe PHPV with an unrecordable visual evoked potential, no light perception, and intense afferent pupillary defect, an operation should not be performed.¹⁵⁰

Fig. 115.12 (A) Anterior persistent hyperplastic primary vitreous (PHPV) and (B) posterior PHPV which was treated with pars plana vitrectomy and lentectomy. (C) The postoperative fundus photograph shows remnants of the central stalk.

The vitrectomy port location should be varied according to the age of the child, but in these often microphthalmic eyes, the ora serrata may be anteriorly displaced, the pars plana may be absent, or the anterior retina may insert directly onto the pars plicata ciliary body. It is recommended to place the sclerotomies as anteriorly as possible, especially if retinal detachment is determined by preoperative ultrasonography.¹⁵¹ Transillumination is occasionally helpful to locate the ora serrata. To avoid manipulations of the vitreous base or peripheral retina, which may be drawn anteriorly, other authors prefer an approach for vitrectomy through the iris root; incisions are made at the limbus, but this is associated with the danger of severe iris lesions. After lentectomy, diathermy should be used when vessels are visible and the retrolental membrane has to be cut from the ciliary processes using the vitreous cutter. In case of nonaxial lens opacification, lens-sparing vitrectomy should be performed, and Shaikh and Trese¹⁵² recommend dividing the stalk immediately on entry. After division of the stalk and hemostasis, with diathermy if necessary, vitrectomy should be carried out with dissection of epiretinal membranes in the posterior pole. The authors presume that the manipulation of the stalk by vitrectomy and diathermy before division result in damage to the lens capsule and resultant cataract formation.

Membrane peeling is necessary in cases of tractional retinal folds or tractional detachment. In the purely anterior form, the cataract should be removed to provide clear media for visual rehabilitation. Eyes with a posterior PHPV have poor visual results due to posterior pole abnormalities. However, despite posterior-segment involvement, surgical treatment of PHPV can result in functional visual outcome. The degree of ocular malformation, however, will ultimately limit the amount of visual improvement. A total of 71% of patients undergoing vitrectomy for a combined form of anterior and posterior PHPV achieve 20/300 or better.¹⁵¹ In another study,¹⁵⁰ six of 24 eyes operated for PHPV maintained Snellen visual acuity and approximately 50% of patients undergoing surgery for persistent fetal vasculature may achieve useful vision.¹⁵³

In a series of patients suffering from the rare condition of bilateral combined anterior and posterior PHPV, Walsh et al.¹⁴⁹ found that vitrectomy with or without lensectomy is beneficial: 69% of patients maintained at least light perception vision in at least 1 eye at the last follow-up. Of the 28 operated eyes in 16 patients with follow-up data, only 11% eyes were phthisical at the last follow-up.

After surgery, every child should have a short trial (2 months) of occlusion therapy. This should be terminated if no visual improvement is noted, to avoid undue psychosocial impairment.¹⁵¹ Early age at surgery, prompt optical correction with contact lens, and aggressive occlusion therapy are required for successful visual rehabilitation.

Retinopathy of prematurity (ROP)

ROP is discussed in Chapter 114, Retinopathy of prematurity.