New paper from ERN-EYE members: Disease-Causing TIMP3 Variants and Deep Phenotyping of TwoCzech Families with Sorsby Fundus Dystrophy Associated withNovel p.(Tyr152Cys) Mutation
This article reports ocular phenotype and genetic findings in two Czech families with Sorsby fundus dystrophy, reviewing TIMP3 pathogenic variants. Ocular exams and retinal imaging, including OCT angiography, were conducted on two probands and three first-degree relatives. DNA screening and sequencing revealed a novel TIMP3 variant, c.455A>G p.(Tyr152Cys), potentially de novo in one family. Choroidal neovascular membrane development was documented in one patient at 54 years. Overall, the study identifies 23 heterozygous TIMP3 variants, categorizing eleven as pathogenic, eleven as likely pathogenic, and one as a variant of unknown significance, underscoring OCT angiography’s importance in early detection.
1 ERN-EYE center and 1 past member are co-authors.