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Article

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene

22 Jan 2023

Abstract excerpt

Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was to compare longitudinal multimodal imaging of a WDR19-Stargardt patient, harboring p.(Ser485Ile) and a novel c.(3183+1_3184-1)_(3261+1_3262-1)del variant, with 43 ABCA4-Stargardt patients. Age at onset, visual acuity, Ishihara color vision, color fundus, fundus autofluorescence (FAF),...

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PMID: 36833218
DOI: 10.3390/genes14020291

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