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Article

An USH2A variant leading to isolated maculopathy: a novel phenotype.

Ophthalmic genetics - 1 Dec 2025

Bhatter Param, Hallai Gabrielle, Debenedictis Meghan J, Traboulsi Elias I, Yuan Alex

Abstract excerpt

INTRODUCTION: To describe examination and findings in a case of isolated maculopathy with genetic testing revealing an USH2A genotype. METHODS/RESULTS: A 65-year-old man was found to have slowly worsening central vision in both eyes over several years. Fundus examination showed parafoveal pigmentary changes with an otherwise normal peripheral exam in both eyes. Fundus autofluorescence revealed parafoveal...

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Identifiers

PMID: 40624766
DOI: 10.1080/13816810.2025.2528043

Genes

USH2A
ERG

Variants

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