Autosomal Recessively Inherited Ocular Albinism

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Abstract
• A new form of ocular albinism, autosomal recessively inherited ocular albinism (AROA), was studied in seven females and two males from five unrelated Caucasian kindreds. Affected patients have the impaired vision, translucent irides, congenital nystagmus, photophobia, albinotic fundi with hypoplasia of the fovea, and strabismus that are also found in X-linked ocular albinism (XOA). Unlike XOA, however, this form of ocular albinism is inherited as an autosomal recessive trait, with females affected as severely as males. Obligate heterozygotes of AROA lack the ocular abnormalities that are present in females heterozygous for XOA. Also, skin and hairbulb biopsy specimens do not reveal any abnormalities in patients with AROA, whereas giant pigment granules are found in patients heterozygous and hemizygous for XOA. The recognition of this disorder is imperative for proper diagnosis and responsible genetic counseling.