Albinism is no longer a clinical diagnosis. The past classification of albinism was predicated on phenotypic expression, but now molecular biology has defined the condition more accurately. With recent advances in molecular research, it is possible to diagnose many of the various albinism conditions on the basis of genetic causation. This article seeks to review the current state of knowledge o...

PURPOSE Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye. OCA1 is an autosomal recessive genetic disorder caused by mutations in the TYR gene located at chromosome band 11q14-q25. The purpose of this study was to carry out genetic analysis of OCA1 in Indian families. METHODS Genomic DNA was isolated from blood leukocytes o...

Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyros...

A One and half year-old female child born out of 2consanguineous marriage came with multiple hypopigmented patches over the face, trunk lower limbs. There was history recurrent upper respiratory tract infections. On examination she had silvery grey hair, mild hepatomegaly. Ophthalmological revealed oculocutaneous albinism. Skin biopsy showed coarse clumps melanin pigment in epidermis. Hair moun...

UNLABELLED We present 3 cases with oculocutaneous albinism in which a high refractive error was optically corrected by implantation of an Artisan iris-fixated phakic intraocular lens, with a follow-up of 8 to 14 years. FINANCIAL DISCLOSURE No author has a financial or proprietary interest in any material or method mentioned.