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