Article

Bilateral Macular Schisis and Progressive Vision Loss in a Young Male with Compound Heterozygous NR2E3 Mutations: A 4-Year Follow-Up

2025-11-13

Abstract excerpt

<title>Abstract</title> <p> <bold>Purpose</bold> To characterize a novel NR2E3 mutation pair (p.R311Q/p.R97H) in Enhanced S-cone syndrome (ESCS) and its clinical trajectory. <bold>Methods</bold> A 20-year-old male with progressive nyctalopia and recurrent macular edema underwent comprehensive evaluation including spectral-domain OCT, full-field ERG, pattern/flash VEP, and whole-exome sequencing with familial...

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Literature Corpus work: 75ea6d6e-d66d-5a7e-8e4d-c82328971b99
DOI: 10.21203/rs.3.rs-7553550/v1

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