CO-OCCURRING USHER SYNDROME TYPE 1 AND RENAL FAILURE.

PURPOSE: The aim of this study was to describe a patient with a rare co-occurrence of Usher syndrome type 1C and renal disease, suspected to be secondary to Alport syndrome.

METHOD: This was a case report and literature review of cases with Usher syndrome and renal failure. Clinical examination, color fundus photography, visual field tests, electroretinography, and whole-exome sequencing were used to diagnose and document the patient's clinical presentation.

RESULTS

An 18-year-old female patient with a known history of congenital hearing loss and chronic renal failure presented with progressive night and peripheral visual impairment, suspicious for an inherited retinal disease. Visual field testing, fundus examination, and electroretinography findings supported the diagnosis of Usher syndrome. Whole-exome sequencing identified a novel homozygous frameshift variant (c.238del) in USH1C gene. Whole-exome sequencing also identified a homozygous COL4A3 variant of unknown significance, which may be responsible for concomitant Alport syndrome.

CONCLUSION

By presenting this rare case of co-occurring Usher syndrome Type 1 and renal failure, the authors highlight the importance of conducting further investigations that could reveal an additional underlying etiology when these entities are present.