Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

doi:10.1136/jmedgenet-2020-107150

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Article

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Journal of medical genetics - 1 Aug 2021

Olivier Guillaume, Corton Marta, Intartaglia Daniela, Verbakel Sanne K, Sergouniotis Panagiotis I, Le Meur Guylène, Dhaenens Claire-Marie, Naacke Hélène, Avila-Fernández Almudena, Hoyng Carel B, Klevering Jeroen, Bocquet Béatrice, Roubertie Agathe, Sénéchal Audrey, Banfi Sandro, Muller Agnès, Hamel Christian L, Black Graeme C, Conte Ivan, Roosing Susanne, Zanlonghi Xavier, Ayuso Carmen, Meunier Isabelle, Manes Gaël

Abstract excerpt

BACKGROUND: Inherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despite the identification of over 90 genes associated with RP, conventional genetic testing fails to detect a molecular diagnosis in about one third of patients with RP....

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PMID: 32817297
DOI: 10.1136/jmedgenet-2020-107150

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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