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Ophthalmic Paediatr Genet. 1990 Dec;11(4):265-71.

X-linked ocular albinism. Characteristic pattern of affection in female carriers.

Author information

1
Augenklinik mit Poliklinik, University of Erlangen-N├╝rnberg, F.R.G.

Abstract

The authors report on a family with X-linked ocular albinism. Examined were one of three affected males and eight females. Six women were carriers and showed iris retroillumination and typical abnormalities of the fundus. The patchy or striated hypopigmentation of the retinal pigment epithelium is thought to be due to random inactivation of the paternal or maternal X-chromosome respectively. The pattern of affection however represents a nonrandom embryological developmental pattern of the retinal pigment epithelium.

PMID:
2096354
DOI:
10.3109/13816819009015712
[Indexed for MEDLINE]

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