Founder Homozygous Nonsense Variant and Variable-Onset Retinal Degeneration

Is involved in inherited retinal diseases (IRDs)?In this cohort study including 13 patients, a homozygous nonsense variant in was associated with variable IRD phenotypes in 3 families of North-African Jewish descent and 1 Italian family.Whole-genome and whole-exome sequencing enabled the identification and verification of an association between and IRDs; should be included in the genetic analysis of IRD cases with retinitis pigmentosa with or without macular involvement.

Corresponding Author: Samer Khateb; MD, PhD, Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, the Hebrew University of Jerusalem, Jerusalem, Israel, 91120 (samer.khateb@mail.huji.ac.il).

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