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D.M. Salib, C. Ferreira, D. Sarraf; Age-related Macular Degeneration and Retinitis Pigmentosa in an Hispanic Family . Invest. Ophthalmol. Vis. Sci. 2003;44(13):5089.
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Purpose: To describe the clinical, electroretinographic and genetic findings in an Hispanic family in which the propositus exhibited severe atrophic age-related macular degeneration (ARMD) while 2 children demonstrated classic rod-cone retinitis pigmentosa (RP). Methods: Three members of the described family, 2 siblings and their mother, underwent complete ophthalmologic examination, fluorescein angiography, and electroretinography (ERG). Genetic screening was conducted to search for mutations in the ABCA4 and Peripherin/RDS genes. Results: The 2 siblings described in this study were found to have clinical and ERG evidence of a rod-cone degenerative pattern of RP, while their mother had clinical and angiographic evidence of severe atrophic ARMD with normal ERG testing. Genetic screening was negative for mutations of ABCA4 and Peripherin/RDS. Conclusions: The presence of ARMD and RP in different members of one family lacks precedent in the literature. Variability in the gene expression of ABCR and Peripherin/RDS has been well described but was not the causative factor in this family. An alternative gene with variable expression and/or manifesting a carrier state may explain segregation of the 2 diseases in 1 family but more elaborate genetic testing was not possible given the small size of the family. Random association of the 2 diseases cannot be excluded.
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