USH2A Gene in Retinitis Pigmentosa: A Tale of Three Patients

By Patricia C Sanchez Diaz, DVM, PhD, FAAO

Purpose

This report aims to illustrate the impact of genetic testing in the diagnosis and management of hereditary retinal dystrophy. Here we describe the genetic changes identified in the USH2A gene in three patients with a clinical diagnosis of Usher syndrome (RP plus hearing loss) and discuss the implications of these genetic findings in helping patients to better understand their condition and to plan for their future.


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