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

Ophthalmic Paediatrics and Genetics
G E LangR A Pfeiffer

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.

References

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Citations

Feb 11, 1998·Ophthalmic Genetics·R SalatiF Polenghi
Jul 9, 1999·American Journal of Medical Genetics·H D Rott
Mar 25, 2004·American Journal of Medical Genetics. Part a·Carsten H MeyerPeter Kroll
Jul 31, 2013·Current Opinion in Ophthalmology·Wadakarn WuthisiriAlex V Levin
May 18, 2019·Ophthalmic Surgery, Lasers & Imaging Retina·Katherine J WertVinit B Mahajan
Feb 22, 2001·Experimental Eye Research·P SamaraweeraS J Orlow

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