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

ABSTRACT:

Purpose

To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS).

Design

Retrospective case series.

Participants

Fifty-six patients with ESCS.

Methods

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).

Main outcome measures

Age at onset of visual symptoms, best-corrected visual acuity (BCVA), quantitative age-related electrophysiologic decline, and imaging findings.

Results

Mean age at onset of

SUBMITTER: de Carvalho ER 

PROVIDER: S-EPMC7861019 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature