A Phenotype–Genotype Correlation Study of X-Linked Retinoschisis – Corrected Proof

Purpose: To compare the clinical phenotype and detailed electroretinographic parameters in X-linked retinoschisis (XLRS). Design: Retrospective, comparative study. Participants: Fifty-seven patients (aged 1–67 years) with molecularly confirmed XLRS were clinically ascertained. Methods: Pattern electroretinography (PERG) and full-field electroretinography (ERG), incorporating international standard recordings, were performed in 44 cases. Thirteen patients, mostly pediatric, were tested using a simplified ERG protocol. On-Off and S-cone ERGs were performed in most adults. Fundus autofluorescence (FAF) imaging and optical coherence tomography (OCT) were available in 17 and 21 cases, respectively. Main Outcome Measures: The clinical and electrophysiologic data associated with different types of mutation in (Read more...)

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