Albinism

Ophthalmologica. 1979;178(1-2):19-31. doi: 10.1159/000308802.

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).

Publication types

  • Review

MeSH terms

  • Albinism / classification*
  • Albinism / enzymology
  • Albinism / genetics
  • Chediak-Higashi Syndrome / enzymology
  • Chediak-Higashi Syndrome / genetics
  • Deafness / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Monophenol Monooxygenase / deficiency
  • Monophenol Monooxygenase / metabolism
  • Pedigree
  • Syndrome

Substances

  • Monophenol Monooxygenase