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...)