Expanded clinical spectrum of enhanced S-cone syndrome

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.