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Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins.

Publication ,  Journal Article
Small, KW; Anderson, WB
Published in: Arch Ophthalmol
October 1991

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.

Duke Scholars

Published In

Arch Ophthalmol

DOI

ISSN

0003-9950

Publication Date

October 1991

Volume

109

Issue

10

Start / End Page

1408 / 1410

Location

United States

Related Subject Headings

  • Visual Acuity
  • Twins, Monozygotic
  • Retinitis Pigmentosa
  • Retinal Vein
  • Retinal Diseases
  • Pigment Epithelium of Eye
  • Pedigree
  • Ophthalmology & Optometry
  • Male
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Small, K. W., & Anderson, W. B. (1991). Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins. Arch Ophthalmol, 109(10), 1408–1410. https://doi.org/10.1001/archopht.1991.01080100088048

Published In

Arch Ophthalmol

DOI

ISSN

0003-9950

Publication Date

October 1991

Volume

109

Issue

10

Start / End Page

1408 / 1410

Location

United States

Related Subject Headings

  • Visual Acuity
  • Twins, Monozygotic
  • Retinitis Pigmentosa
  • Retinal Vein
  • Retinal Diseases
  • Pigment Epithelium of Eye
  • Pedigree
  • Ophthalmology & Optometry
  • Male
  • Humans