Clinical Findings and Molecular Genetics of -Associated Usher Syndrome

What clinical features, genetic variants, progression patterns, and social outcomes characterize -associated retinopathy?In this case series of 28 patients with molecularly confirmed associated retinopathy, 2 novel pathogenic variants were identified. Patients presented with early-onset visual symptoms and exhibited slow progression over a decade, and retinal imaging demonstrated regional macular sparing in association with specific missense variants; a notable proportion reported depression and unemployment, highlighting the psychosocial burden of the disease.These findings expand understanding of -associated retinopathy and highlight implications for prognosis, counseling, and development of targeted therapies.

Corresponding Author: Michel Michaelides, MD, UCL Institute of Ophthalmology, University College London, 11-43 Bath St, London EC1V 9EL, United Kingdom (michel.michaelides@ucl.ac.uk).

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