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Phenotypic characteristics of Danish patients with achromatopsia.

Acta ophthalmologica - 1 Sept 2024

Andersen Mette K G, Bertelsen Mette, Gundestrup Svend, Grønskov Karen, Kessel Line

Abstract excerpt

PURPOSE: To describe the phenotype of Danish patients with genetically verified achromatopsia (ACHM) with special focus on signs of progression on structural or functional parameters, and possible genotype-phenotype correlations. METHODS: Forty-eight patients were identified, with disease-causing variants in five different genes: CNGA3, CNGB3, GNAT2, PDE6C and PDE6H. Longitudinal evaluation was possible for 11...

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PMID: 38348755
DOI: 10.1111/aos.16656

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