X-linked ocular albinism. Characteristic pattern of affection in female carriers.
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.
Lang
G E
GE
Augenklinik mit Poliklinik, University of Erlangen-Nürnberg, F.R.G.
Rott
H D
HD
Pfeiffer
R A
RA
D000328:Adult; D016117:Albinism, Ocular / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005654:Fundus Oculi; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000002:abnormalities; D014792:Visual Acuity; D014960:X Chromosome