Oculocutaneous albinism (OCA)

Published on 11/06/2015 by admin

Filed under Pediatrics

Last modified 22/04/2025

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Baby with OCAIA with white hair, pink skin and severe nystagmus.

Child with OCAIB with blond hair and some skin pigment.

CLINICAL FEATURES

Newborns with white hair, pink skin, photophobia and ocular nystagmus should bring to mind OCA. There are four classes of OCA. OCA 1 is autosomal recessive and involves mutations in the gene encoding the tyrosinase enzyme.

Children with OCA1A have no tyrosinase activity and children with OCA1B retain residual tyrosinase activity. There is a temperature-sensitive mutation in OCA1B where the tyrosinase enzyme fails to function at 35–37°C. Children with OCA1A will never develop pigment, whereas in OCA1B and the other OCAs: OCA2 (p gene defect), OCA3 (TRP-1 gene defect) and OCA4 (MATP defect) some hair and skin pigment will be present at birth and darken with age, including the later appearance of freckles and pigmented nevi. Rarely, albinism may be associated with petechiae and bleeding caused by abnormal platelet aggregation in the Hermansky–Pudlak syndrome, a mutation of B-3A subunit of Ap3 gene, the DTNPB1 gene, or the 8HP51, HP53, Hp54, HP56 or BLOC1539 genes. Albino children who suffer frequent infections may have the Chediak–Higashi syndrome with mutations of the CHS-1 gene which results in dysfunctional leukocyte degranulation.

TREATMENT

There is no specific treatment for the pigment loss. Strict sun avoidance and sun protection should be strongly recommended and referral to an ophthalmologist will be needed.

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CLINICAL FEATURES

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