Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.

Ophthalmology Retina
Emanuel R de CarvalhoMichel Michaelides

Abstract

To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS). Retrospective case series. Fifty-six patients with ESCS. Clinical history, examination, imaging, and electrophysiologic findings of 56 patients (age range, 1-75 years) diagnosed with ESCS were reviewed. Diagnosis was established by molecular confirmation of disease-causing variants in the NR2E3 gene (n = 38) or by diagnostic full-field electroretinography findings (n = 18). Age at onset of visual symptoms, best-corrected visual acuity (BCVA), quantitative age-related electrophysiologic decline, and imaging findings. Mean age at onset of visual symptoms was 4.0 years, and median age at presentation was 20.5 years, with mean follow-up interval being 6.1 years. Six patients were assessed once. Disease-causing variants in NR2E3 were identified in 38 patients. Mean BCVA of the better-seeing eye was 0.32 logarithm of the minimum angle of resolution (logMAR) at baseline and 0.39 logMAR at follow-up. In most eyes (76% [76/100]), BCVA remained stable, with a mean BCVA change of 0.07 logMAR during follow-up. Nyctalopia was the most common initial symptom, reported in 92.9% of patients (52/56)...Continue Reading

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Citations

Feb 20, 2021·American Journal of Ophthalmology Case Reports·Sara García CarideJuan Donate López
Apr 6, 2021·Ophthalmology Retina·Abrar K AlsalamahSawsan R Nowilaty
Nov 3, 2021·BMJ Case Reports·Kit Green SandersonDavid J Keegan

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Software Mentioned

MODEL
InterVar Effect Analyzer
Protein Variation Effect Analyzer
HumanVar
SPSS
SWISS
GraphPad Prism
ChromaTest
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