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- W2950376487 abstract "Background Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders affecting melanin biosynthesis. It is always an autosomal recessive inheritance and is characterized by decreased or absent pigmentation of hair, skin, iris and retina. Clinical presentation is typically of an infant who does not appear to see at the expected 6–8 week corrected age, often with nystagmus and pale pigmentation. Clinical findings demonstrate grossly obvious iris attenuation and iris transillumination, refractory errors and photophobia. Investigations include genetic testing, Optical Coherence Tomography (OCT) to identify foveal hypoplasia and electrophysiology to establish any excessive crossing of optic nerve fibres at the optic chiasma. Method A Caucasian female, born to non-consanguineous parents was referred to Paediatric services at one week of age with concerns regarding her pale hair, eyelashes and diffuse pink reflex from both eyes. On examination she had marked iris transillumination without nystagmus and significant hypermetropic astigmatism for which glasses were prescribed. Her father had iris transillumination and nystagmus but met the visual standards to drive. By eight weeks, the infant had developed nystagmus and was showing some visual awareness. Developmental examination was age appropriate. Results At initial presentation the expectation of delayed visual maturation was explained to the parents with reassurance that once vision has matured, OCA is a stable condition. Advice was given regarding protection from solar damage as well as the importance of regular skins checks in view of the possible increased risk of skin cancers. The family history and the phenotypical variability between OCA subtypes prompted gene testing to arrive at a molecular diagnosis. Conclusion The case highlights the importance of early identification so families are aware of the natural history of OCA as well as the need to protect skin from UV damage. Carrier detection and personalised genetic counselling are possible once the disease causing mutations in the family are identified." @default.
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- W2950376487 date "2019-06-01" @default.
- W2950376487 modified "2023-09-26" @default.
- W2950376487 title "GP77 Oculocutaneous albinism in a neonate" @default.
- W2950376487 doi "https://doi.org/10.1136/archdischild-2019-epa.143" @default.
- W2950376487 hasPublicationYear "2019" @default.
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