Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.

Abstract

Introduction: Usher syndrome (USH) is a rare, autosomal-recessive genetic disorder and a leading cause of early onset deaf-blindness. A clinical diagnosis is made by the presence of retinitis pigmentosa (RP) with sensorineural hearing loss (SNHL). Subtype (USH1, USH2, USH3) is determined by severity and age of onset. Molecular testing is able to further distinguish USH subtypes by causative gene. As gene therapy strategies continue to be explored for USH, it is important to know the underlying genetic cause and to coordinate care among an interdisciplinary team.

Methods: We reviewed charts of 198 individuals presenting to the RP clinic at Bascom Palmer Eye Institute (BPEI) for suspected USH. Demographic information, USH clinical diagnosis, molecular testing, molecular diagnosis, and audiological data were collected.

Results: Of the 198 patients reviewed, 190 (96%) met clinical criteria for USH and received a clinical diagnosis. There were 67 (35%) that had a genetic test with a pathogenic molecular diagnosis. The average ages at molecular diagnosis were USH1B, 20 years old; USH2A, 37 years old; USH2C, 50 years old. Of the 67 with a molecular diagnosis, 23 (34%) established ophthalmic care and 8 of these (11%) established audiological care.

Discussion/conclusion: Molecular testing and diagnosis should be part of the routine care of USH individuals to facilitate earlier interventions and coordinated care between ophthalmology and audiology.

Level of evidence: 4 Laryngoscope, 2024.