Expanded Clinical Spectrum of Enhanced S-Cone Syndrome

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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 clinical observations in ESCS include (1) torpedo-like, deep atrophic lesions with a small hyperpigmented rim, variably sized and predominantly located along the arcades; (2) circumferential fibrotic scars in the posterior pole with a spared center and large fibrotic scars around the optic nerve head; and (3) yellow dots in areas of relatively normal-appearing retina.

CONCLUSIONS AND RELEVANCE

Enhanced S-cone syndrome has more pleiotropy than previously appreciated. While the nummular type of pigmentation at the level of the retinal pigment epithelium and cystoid or schisis-like maculopathy with typical functional findings remain classic hallmarks of the disease, changes such as circumferential fibrosis of the macula or peripapillary area and “torpedo-like” lesions along the vascular arcades may also direct the clinical diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis.

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