Molecular pathophysiological basis of the ocular albinism type 1 / 中国病理生理杂志

ABSTRACT

Ocular albinism type 1 (OA1),the most form of the ocular albinism,is an X-linked disorder mainly characterized by a severe reduction of visual acuity,hypopigmentation of the retina,photophobia,strabismus and nystagmus. The OA1 gene is located on chromosome Xp22.32 and the coding sequence is divided into nine exons. The OA1 gene codes for a 404 amino acid protein thought to be a melanosomal transmembrane glycoprotein. The OA1 protein is similar to the G protein-coupled receptors,but it's exact function is not clear. There are many mutations and deletions of the OA1 gene have been found.