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D. Sarraf, D.M. Salib, A. Jain, P.A. Quiram; The Coexistence of Age–Related Macular Degeneration and Retinitis Pigmentosa in Three Unrelated Families . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1806.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To describe the clinical, electroretinographic and genetic findings in three unrelated families in which atrophic age–related macular degeneration (ARMD) was present in the first generation while rod–cone retinitis pigmentosa (RP) was present in the second generation. Methods: Members of the described families underwent complete ophthalmologic examination, fluorescein angiography (FA), and electroretinography (ERG). Genetic screening was conducted to search for mutations of the ABCA4 and peripherin/RDS genes in two of the families. Results: The mother in each of the three families had clinical and angiographic evidence of marked geographic atrophy and drusen deposition causing severe vision loss but normal ERG testing. In contrast, at least one child in each family demonstrated clinical and electroretinographic evidence of rod–cone retinitis pigmentosa with a flat or severely depressed scotopic response and variably preserved photopic response. Genetic screening was negative for mutations in ABCA4 and peripherin/RDS. Conclusions: The coexistence of ARMD and RP in different members of one family lacks precedent in the literature. We present three families of severe atrophic ARMD in one generation and rod–cone RP in another which may represent a novel phenotype. Phenotypic variability in the expression of ABCA4 and peripherin/RDS mutations has been well described but was not identified as a causative factor in this study. A currently unidentified genetic mutation with variable expression and/or manifestion of a carrier state may explain two diseases in one family.
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