The coexistence of age-related macular degeneration and retinitis pigmentosa in three unrelated families.
OBJECTIVE
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.
Sarraf
David
D
Jules Stein Eye Institute, University of California, Greater LA VA Healthcare Center, Los Angeles, CA 90095, USA. dsarraf@ucla.edu
Salib
David M
DM
Jain
Atul
A
Quiram
Polly A
PA
D000328:Adult; D000369:Aged, 80 and over; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012720:Severity of Illness Index; D014786:Vision Disorders / Q000209:etiology / Q000503:physiopathology