Article
Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes.
Investigative ophthalmology & visual science - 1 Sept 2026
Hussein Rowaida, Tayyib Alaa, Lin Siying, Parameswarappa Deepika, Mehta Maanik, Mohla Aditi, Ahmed Kashif, Tumber Anupreet, Tavares Erika, Schiff Elena R, Morel Chantal, Nimmo Graeme, Rajala Ammaji, VandenHoven Cynthia, MacNeill Katelyn, MacDonald Heather, Klatt Regan, Keane Pearse A, Michaelides Michel, Sondheimer Neal, Pizzamiglio Chiara, Dowd Nicola, Robson Anthony G, Webster Andrew R, Minassian Berge A, Ivakine Evgueni, Monnier Philippe P, Quinlivan Rosaline, Khan Kamron, Tarnopolsky Mark, Rajala Raju V S, Héon Elise, Pinós Tomas, Mahroo Omar A, Vincent Ajoy
Abstract excerpt
Purpose: Biallelic pathogenic variants in PYGM (glycogen myophosphorylase) cause glycogen storage disease V (GSDV), a skeletal muscle disorder with reported association with hereditary macular dystrophy (HMD). This study investigated the role of PYGM in HMD and broader retinal disease through clinical and functional analyses. Methods: An autosomal recessive HMD family underwent phenotyping and genome sequencing....
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- Humans
- Male
- Animals