Expanded clinical spectrum of enhanced S-cone syndrome.

ABSTRACT:

Importance

New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy.

Objective

To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene.

Design

Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012.

Setting

Academic and private ophthalmology practices specialized in retinal dystrophies.

Participants

A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations.

Intervention

Patients had ophthalmic examinations including visual function testing that led to the original diagnosis.

Main outcomes and measures

New fundus features captured with imaging modalities.

Results

New

SUBMITTER: Yzer S 

PROVIDER: S-EPMC4405536 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature