Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins.
We studied a 43-year-old woman affected with pigmented paravenous retinochoroidal atrophy and her unaffected monozygotic twin. The affected twin had stable visual acuity (20/25), typical fundus findings, markedly constricted visual fields, abnormal color vision, and an abnormal electroretinogram, all consistent with pigmented paravenous retinochoroidal atrophy. Results of examinations and studies in her twin were entirely normal. Fingerprinting for DNA performed on the twins strongly supported monozygosity. Our findings suggest that either our patient did not inherit pigmented paravenous retinochoroidal atrophy or that an unusual (nonmendelian) genetic mechanism occurred.
Department of Ophthalmology, Medical University of South Carolina, Charleston 29425-2236.
K W
KW
Small
W B
WB
Anderson
D000328:Adult; D001284:Atrophy; D015862:Choroid Diseases / Q000235:genetics* / Q000473:pathology; D003117:Color Vision Defects / Q000473:pathology; D016172:DNA Fingerprinting; D004200:Diseases in Twins; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D012169:Retinal Vein / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000473:pathology; D014430:Twins, Monozygotic; D014792:Visual Acuity