Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Cited Authors
- Small, KW; Anderson, WB
Published Date
- October 1991
Published In
Volume / Issue
- 109 / 10
Start / End Page
- 1408 - 1410
PubMed ID
- 1929930
International Standard Serial Number (ISSN)
- 0003-9950
Digital Object Identifier (DOI)
- 10.1001/archopht.1991.01080100088048
Language
- eng
Conference Location
- United States