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.
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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Authors: Michael J Ammar; Kurt T Scavelli; Katherine E Uyhazi; Emma C Bedoukian; Leona W Serrano; Ilaina D Edelstein; Grace Vergilio; Robert F Cooper; Jessica I W Morgan; Priyanka Kumar; Tomas S Aleman Journal: Retin Cases Brief Rep Date: 2021-11-01
Authors: Fiona Blanco-Kelly; María García Hoyos; Miguel Angel Lopez Martinez; Maria Isabel Lopez-Molina; Rosa Riveiro-Alvarez; Patricia Fernandez-San Jose; Almudena Avila-Fernandez; Marta Corton; Jose M Millan; Blanca García Sandoval; Carmen Ayuso Journal: PLoS One Date: 2016-02-24 Impact factor: 3.240
Authors: Karin W Littink; Patricia T Y Stappers; Frans C C Riemslag; Herman E Talsma; Maria M van Genderen; Frans P M Cremers; Rob W J Collin; L Ingeborgh van den Born Journal: Genes (Basel) Date: 2018-01-30 Impact factor: 4.096
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