A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy

Joseph R. Abraham; Alison Zhao; Meghan J DeBenedictis; Elias I. Traboulsi; Jonathan E. Sears

doi:10.1080/13816810.2025.2560624

November 20, 2025Ophthalmic Genetics

A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy

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Key Points

This report aims to describe a new mutation in TSPAN12 associated with atypical familial exudative vitreoretinopathy.
Descriptive case report of a novel TSPAN12 mutation.
Clinical evaluation of the patient with retinitis pigmentosa-like symptoms.
Genetic analysis to identify the pathogenic variant.
Identified a novel pathogenic variant in TSPAN12.
The patient exhibited a phenotype resembling retinitis pigmentosa.
Findings suggest atypical manifestation of familial exudative vitreoretinopathy.

Implication

Case report reveals a TSPAN12 mutation causing retinitis pigmentosa phenotype in familial exudative vitreoretinopathy, suggesting atypical presentation.

Abstract

This report highlights a novel TPSAN12 pathogenic variant causing atypical FEVR which manifests with a retinitis pigmentosa phenotype.

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Cite This Study

Abraham et al. (2025) studied this question.

synapsesocial.com/papers/6924f08cc0ce034ddc35054d https://doi.org/10.1080/13816810.2025.2560624

View Full Paper

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A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy

Key Points

Implication

Abstract

Discussion

Cite This Study

A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy

Key Points

Implication

Abstract

Discussion

Cite This Study

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