Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

doi:10.1016/j.gim.2025.101401

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Article

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025

Ehrenberg Miriam, Avraham Maayan, Asodu Sandeep Sarma, Moye Abigail R, Sangermano Riccardo, Rizel Leah, Ali-Nasser Tahleel, Sher Ifat, Gurwitz David, Chao Katherine R, Rivera Antonio, Webster Andrew R, Rivolta Carlo, Newman Hadas, Pras Eran, Rotenstreich Ygal, Banin Eyal, Pierce Eric A, Zur Dinah, Arno Gavin, Bujakowska Kinga M, Lin Siying, Sharon Dror, Ben-Yosef Tamar

Abstract excerpt

PURPOSE: To identify the genetic cause for disease in individuals affected with inherited retinal disease and to characterize their retinal phenotype and the properties of the underlying gene. METHODS: Participants underwent a comprehensive ophthalmological evaluation, including best-corrected visual acuity, visual field testing, fundus autofluorescence, optical coherence tomography, and electroretinography....

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PMID: 40079362
DOI: 10.1016/j.gim.2025.101401
PMCID: PMC12284815

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