- Abstract:
-
PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. METHODS: Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical coherence...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1167/iovs.09-4561
-
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- Journal:
- Investigative ophthalmology and visual science
- Volume:
- 51
- Issue:
- 9
- Pages:
- 4771-4780
- Publication date:
- 2010-09-05
- DOI:
- EISSN:
-
1552-5783
- ISSN:
-
0146-0404
- URN:
-
uuid:b5637f77-e334-4ad3-9d08-cea43eb7b532
- Source identifiers:
-
479530
- Local pid:
- pubs:479530
- Language:
- English
- Keywords:
- Copyright date:
- 2010
Journal article
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
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