Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins.

Published

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

Pubmed Central ID

  • 1929930

International Standard Serial Number (ISSN)

  • 0003-9950

Language

  • eng

Conference Location

  • United States