An USH2A variant leading to isolated maculopathy: a novel phenotype

Param Bhatter; Gabrielle Hallai; Meghan J. DeBenedictis; Elias I. Traboulsi; Alex Yuan

doi:10.1080/13816810.2025.2528043

July 7, 2025Ophthalmic Genetics

An USH2A variant leading to isolated maculopathy: a novel phenotype

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Key Points

To describe a novel clinical phenotype associated with an USH2A genetic variant presenting as isolated maculopathy.
Conducted clinical ophthalmic evaluation and genetic sequencing to assess genotype-phenotype correlations in retinal dystrophy.
Identified an USH2A variant linked directly to isolated maculopathy rather than classic generalized retinitis pigmentosa or Usher syndrome.
Demonstrated that the phenotypic spectrum of USH2A-associated retinal disease extends to localized central macular degeneration.

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Implication

Genetic report reveals isolated maculopathy in USH2A variant carriers, indicating an expanded clinical phenotype for USH2A-associated retinal dystrophy.

Abstract

INTRODUCTION: genotype. METHODS/RESULTS: . DISCUSSION: -associated retinal dystrophy.

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Bhatter et al. (2025) studied this question.

synapsesocial.com/papers/6a16b3cfc23c548e2a7b7d0e https://doi.org/10.1080/13816810.2025.2528043

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An USH2A variant leading to isolated maculopathy: a novel phenotype

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

An USH2A variant leading to isolated maculopathy: a novel phenotype

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

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