Abnormalities of the Lens

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Chapter 620 Abnormalities of the Lens

Cataracts

A cataract is any opacity of the lens (Fig. 620-1). Some are clinically unimportant; others significantly affect visual function. The incidence of infantile cataracts is approximately 2-13/10,000 live births. An epidemiologic study of infantile cataracts published in 2003 suggests that approximately 60% of cataracts are an isolated defect; 22% are part of a syndrome; and the remainder is associated with other unrelated major birth defects. Cataracts are more common in low birthweight infants. Infants at or below 2,500 g have a 3- to 4-fold increased odds of developing infantile cataracts. Some cataracts are associated with other ocular or systemic disease.

Differential Diagnosis

The differential diagnosis of cataracts in infants and children includes a wide range of developmental disorders, infectious and inflammatory processes, metabolic diseases, and toxic and traumatic insults (Table 620-1). Cataracts may also develop secondary to intraocular processes, such as retinopathy of prematurity, persistent hyperplastic primary vitreous, retinal detachment, retinitis pigmentosa, and uveitis. A portion of cataracts in children are inherited (Fig. 620-2).

Table 620-1 DIFFERENTIAL DIAGNOSIS OF CATARACTS

DEVELOPMENTAL VARIANTS

Prematurity (Y-suture vacuoles) with or without retinopathy of prematurity

GENETIC DISORDERS

Simple Mendelian Inheritance

Major Chromosomal Defects

Multisystem Genetic Disorders

Inborn Errors of Metabolism

ENDOCRINOPATHIES

CONGENITAL INFECTIONS

OCULAR ANOMALIES

MISCELLANEOUS DISORDERS

IDIOPATHIC

Developmental Variants

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