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OCA1BOculocutaneous Albinism, Type IB
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In its first step, the enzyme converts tyrosine amino acid into dihydroxy phenylalanine (DOPA) and then to DOPAquinone.1 Phenotypically, the TYR gene defect is categorized into OCA1A and OCA1B. OCA1A patients completely lack tyrosinase activity, while in OCA1B condition the enzyme shows reduced activity.
Clinically it is sub-categorized into OCA1A characterized by complete loss of tyrosinase activity and OCA1B characterized by reduced enzyme activity4.
These include OCA1B (affected individuals are born with white skin and hair but develop some pigment with age and express less severe ocular findings than in OCA1A), OCA1TS (tyrosinase is temperature-sensitive and active in cooler regions of the body resulting in a phenotype similar to that of the Siamese cat) and platinum OCA (small amounts of pigment accumulate in the hair and eyes in late childhood resulting in a silver tinge).