biostudies-literatureKersten EEuropean Research CouncilEuropean Commission569-574https://www.ebi.ac.uk/biostudies/studies/S-EPMC6282796biostudies-literatureUnknown94(6)It can be clinically challenging to distinguish dry age-related macular degeneration (AMD) from AMD-mimicking dystrophies, and sometimes misdiagnosis occurs. With upcoming therapies for dry AMD it is important to exclude patients with a different retinal disease from clinical trials. In this study we evaluated the occurrence of AMD-mimicking dystrophies in an AMD cohort. Whole-exome sequencing (WES) was performed in 218 patients with intermediate AMD or geographic atrophy secondary to AMD and 133 control individuals. WES data was analyzed for rare variants in 19 genes associated with autosomal dominant and recessive macular dystrophies mimicking AMD. In three (1.4%) of 218 cases we identified a pathogenic heterozygous variant (PRPH2 c.424C > T; p.R142W) causal for autosomal dominant centraClinical geneticsGenetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.PMC6282796310644 (MACULA)634479 (EYE‐RISK)310644Fauser Sde Jong EKHoyng CBden Hollander AICorominas JPauper MBakker BAltay LKersten EGeerlings MJfalseGenetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.It can be clinically challenging to distinguish dry age-related macular degeneration (AMD) from AMD-mimicking dystrophies, and sometimes misdiagnosis occurs. With upcoming therapies for dry AMD it is important to exclude patients with a different retinal disease from clinical trials. In this study we evaluated the occurrence of AMD-mimicking dystrophies in an AMD cohort. Whole-exome sequencing (WES) was performed in 218 patients with intermediate AMD or geographic atrophy secondary to AMD and 133 control individuals. WES data was analyzed for rare variants in 19 genes associated with autosomal dominant and recessive macular dystrophies mimicking AMD. In three (1.4%) of 218 cases we identified a pathogenic heterozygous variant (PRPH2 c.424C > T; p.R142W) causal for autosomal dominant centra2018-01-01T00:00:00Z2018 Dec2025-04-04T12:41:39.882Z2019-03-27T00:11:16ZS-EPMC62827963021585210.1111/cge.13447