PURPOSE In albinism, part of the temporal retina projects abnormally to the contralateral hemisphere. A residual misprojection is also evident in feline carriers that are heterozygous for tyrosinase-related albinism. This study was conducted to test whether such residual abnormalities can also be identified in human carriers of oculocutaneous tyrosinase-related albinism (OCA1a). METHODS In ei...

Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. Fetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB and OCA1A. Recently, elucidation of the specific gene mutation in a...

background: oculocutaneous albinism type1 (oca1) is characterized by the absence of melanin pigmentation. the muta­tion on tyr gene makes oca1 as an autosomal recessive genetic disorder. in this study, we delineated the genetic analysis of an iranian family with four members affected with oca1.  methods: clinical exams and paraclinical test were performed for all patients of the case family, al...

Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mammalian species worldwide. Tyrosinase is the key enzyme in melanin biosynthesis, and mutations in the tyrosinase gene result in OCA1A. We examined sequence variation at exon 1 of the tyrosinase gene in 66 humpback whale samples collected from the ea...

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainl...

Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...

BACKGROUND Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. METHODS Clinical exams and paraclinical test were performed for all patients of the case family, also...

Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...

Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited....