2010•OphthalmologicaRequires access

Albinism

J. François

Open publisher page 7 citations

Abstract

There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism). There are three forms of sex-linked albinism: ocular albinism, which is intermediary sex-linked, François-De Rouck syndrome and Ziprkowski syndrome, which show a generalized albinism and are recessive sex-linked. There are two principal forms of cutaneous albinism, one without deafness and the other with deafness (Waardenburg-Klein syndrome).

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What this paper is about

There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism). There are three forms of sex-linked albinism: ocular albinism, which is intermediary sex-linked, François-De Rouck syndrome and Ziprkowski syndrome, which show a generalized albinism and are recessive sex-linked. There are two principal forms of cutaneous albinism, one without deafness and the other with deafness (Waardenburg-Klein syndrome).

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Available abstract

There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism). There are three forms of sex-linked albinism: ocular albinism, which is intermediary sex-linked, François-De Rouck syndrome and Ziprkowski syndrome, which show a generalized albinism and are recessive sex-linked. There are two principal forms of cutaneous albinism, one without deafness and the other with deafness (Waardenburg-Klein syndrome).

Key concepts: Albinism, Ophthalmology, Medicine, Biology, Genetics

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