hyperopia/oxalis tuberosa

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Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism?

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In oculocutaneous albinism (OCA), one can distinguish between a tyrosinase-negative form (no residual activity of the enzyme tyrosinase) and a tyrosinase-positive form (with detectable residual enzymatic activity) and their respective subtypes. In infancy and early childhood the clinical

Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

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Posterior staphyloma is typically associated with myopic degeneration and has not been recognized as a cause of reduced visual acuity in albinism. We report 3 cases of posterior staphyloma, each with oculocutaneous albinism (OCA) defined by phenotype and genotype. Two cases are biological sisters

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.

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Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (OCA).Here, we report an 11-month-old male proband

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