P701: Delineating a case of retinal degeneration and hearing loss in the era of genome sequencing

Genetics in Medicine Open 2026 Open access

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Authors: Amelia Naik, Ehsan Ullah, Ranya Al Rawi, Jimmy Liu, Delphine Blain, Michael Carreon Sibulo, Wadih Zein, Robert B. Hufnagel, Bin Guan
DOI: 10.1016/j.gimo.2026.104191
Cited by: 0

Abstract

Retinopathies are a genetically and clinically heterogeneous group of disorders. Genome sequencing frequently reveals numerous rare variants in Mendelian disease genes, and some extremely rare disease genes may not be included in panel-based testing. In addition, syndromic conditions may present as isolated retinal dystrophy, further complicating the identification of a causative variant. Here, we present a case illustrating differential molecular diagnoses involving two rare disease genes in an individual with retinal degeneration and hearing loss.

Fields of Study & Subjects

Retinal Development and Disorders Genomics and Rare Diseases Hereditary Neurological Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104191–104191
Publication date
1 January 2026
Language
EN