Albinism - StatPearls - NCBI Bookshelf

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• 20/25 to 20/200, usually 20/60 to 20/100.

• lack of dermal and ocular pigment as OCA

• OCA is a group of phenotypically similar genetic disorders derived from errors in melanin synthesis

• spectrum of severity depending upon the subtype of OCA

• OCA1 to OCA7

• 1 in 40,000 worldwid

• most common forms in America and China (70%

• Melanocytes

• derived from neural crest ectoderm during embryonic development and migrate into the skin, eyes, hair, and inner ear

• melanin-producing organelles (melanosomes)

• two most common forms of melanin are eumelanin and pheomelanin

• ynthesis of eumelanin over pheomelanin is stimulated by activation of melanocortin one receptors (coded by the MC1R gene) on melanocytes

• Eumelanin

• black or brown coloratio

• protecting

• ultraviolet radiation B

• Pheomelanin

• ot UV protectiv

• red or blond hair

• Autosomal recessive