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ocular albinism type 1 (OA1); Nettleship-Falls type ocular albinism
Pathology:
- macromelanosomes on skin biopsy
Genetics:
1) X-linked
2) mutations in gene for G protein-coupled receptor 143
Clinical manifestations:
1) pupillary reflex is characteristic
2) fundus is depigmented
- pigmentation is normal elsewhere than in the eye
3) choroidal vessels prominent
4) nystagmus
5) head nodding
6) impaired vision
7) in carrier females the fundus, especially in the periphery, shows a mosaic of pigmentation
Related
G protein-coupled receptor 143 (ocular albinism type 1 protein, GPR143, OA1)
General
albinism; leucopathy
References
OMIM :accession 300500