X-linked retinal disorders and the Lyon hypothesis.
The heterozygous states in X-linked ocular albinism, choroideremia and X-linked retinitis pigmentosa are described. Their fundus appearances differ, to a greater or lesser extent, from those of hemizygous (affected) males and a possible explanation for these differences is briefly discussed.
D000328:Adult; D000417:Albinism / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000209:etiology*; D014960:X Chromosome