Document Detail

The coexistence of age-related macular degeneration and retinitis pigmentosa in three unrelated families.
MedLine Citation:
PMID:  17763236     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To describe the clinical, electroretinographic (ERG) and genetic findings in three unrelated families with a coexistence of severe, atrophic age-related macular degeneration (ARMD) in the first generation and rod-cone retinitis pigmentosa (RP) in the second generation. METHODS: Patients underwent complete ophthalmologic examination, fluorescein angiography (FA), Humphrey visual field (HVF) and ERG analyses. Genetic screening was conducted to search for mutations of the ABCA4, peripherin/RDS, and GCAP-1 genes. RESULTS: In each of the three families, the mother demonstrated severe vision loss from geographic atrophy (GA). At least one child in each family demonstrated clinical and ERG evidence of rod-cone RP with a flat or severely depressed scotopic response and a variably depressed photopic response. Genetic screening was negative for known mutations in ABCA4, peripherin/RDS and GCAP-1 genes. CONCLUSIONS: The coexistence of ARMD and RP in different members of one family lacks precedent in the literature. Here we present three families with severe, atrophic ARMD (GA) in the mothers and rod-cone RP in the children, which may represent a novel phenotype. A currently unidentified genetic mutation with variable expression and/or gene manifesting a carrier state may explain the presence of these two diseases in the same family.
David Sarraf; David M Salib; Atul Jain; Polly A Quiram
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Seminars in ophthalmology     Volume:  22     ISSN:  0882-0538     ISO Abbreviation:  Semin Ophthalmol     Publication Date:    2007 Jul-Sep
Date Detail:
Created Date:  2007-08-31     Completed Date:  2007-11-13     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  8610759     Medline TA:  Semin Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  155-61     Citation Subset:  IM    
Jules Stein Eye Institute, University of California, Greater LA VA Healthcare Center, Los Angeles, CA 90095, USA.
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MeSH Terms
Aged, 80 and over
Fundus Oculi
Macular Degeneration / complications*,  genetics*,  pathology
Middle Aged
Retinitis Pigmentosa / complications*,  diagnosis,  genetics*,  pathology
Severity of Illness Index
Vision Disorders / etiology,  physiopathology

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