Background and objective: To evaluate disease characteristics and frequencies of genetic mutations in a cohort of patients with known or suspected retinal dystrophies.
Patients and methods: A cohort of 37 patients with known or suspected retinal dystrophies received genetic testing with a panel of 31 genes known to result in the development of retinal dystrophies. Disease characteristics identified during chart review were analyzed and related back to their associated genetic mutations in an attempt to link clinical features with genotypes.
Results: Eighteen of 37 patients (48.6%) tested positive for a variant(s) in one or more of the 31 genes tested. Mutations were discovered in 14 of the 31 genes, with USH2A being the most frequently mutated gene. Both gene-positive and gene-negative patient groups had similar disease characteristics including reduced visual acuity, legal blindness, dyschromatopsia, nyctalopia, and reduced peripheral vision.
Conclusions: This investigation demonstrates the utility of genetic testing in a cohort of patients who carry a clinical diagnosis of retinal dystrophy. In this cohort, a significant number of patients had a genetic mutation or variant identified. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:338-345.].
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