OCA1

AcronymDefinition
OCA1Oculocutaneous Albinism Type 1
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Genetic analysis of families with inherited OCA so far has identified seven loci and six genes including; OCA1 (TYR) OCA2 (OCA2) OCA3 (TYRP1) OCA4 (SLC45A2) OCA5 OCA6 (SLC24A5) and OCA7 (C10orf11).
OCA1 was the first locus reported to be associated with OCA.
The clinical spectrum of OCA1 linked patients showed whitish colour of hair eyelashes and eyebrows and the colour of Iris ranges from light blue to almost pink.
Visual acuity is usually better than in OCA1 and can reach up to 3/10 6.
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