ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J

doi:10.1167/iovs.09-4655

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Poloschek, C. M., Bach, M., Lagrèze, W. A., Glaus, E., Lemke, J. R., Berger, W., & Neidhardt, J. (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology & Visual Science, 51(8), 4253–4265. https://doi.org/10.1167/iovs.09-4655

Abstract

PURPOSE: To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes. METHODS: Fifteen family members were investigated by detailed ophthalmic and electrophysiologic phenotyping. Mutation screening was initially performed with microarrays that detect known mutations in genes associated with retinal degeneration. Furthermore, the patients' genomic DN