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Expanded clinical spectrum of enhanced S-cone syndrome.
- Source :
-
JAMA ophthalmology [JAMA Ophthalmol] 2013 Oct; Vol. 131 (10), pp. 1324-30. - Publication Year :
- 2013
-
Abstract
- Importance: New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy.<br />Objective: To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene.<br />Design: Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012.<br />Setting: Academic and private ophthalmology practices specialized in retinal dystrophies.<br />Participants: A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations.<br />Intervention: Patients had ophthalmic examinations including visual function testing that led to the original diagnosis.<br />Main Outcomes and Measures: New fundus features captured with imaging modalities.<br />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.<br />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.
- Subjects :
- Adolescent
Adult
Aged
Child
Child, Preschool
Electroretinography
Eye Diseases, Hereditary genetics
Female
Fibrosis
Fluorescein Angiography
Humans
Male
Middle Aged
Orphan Nuclear Receptors genetics
Photic Stimulation
Retinal Degeneration genetics
Retrospective Studies
Tomography, Optical Coherence
Vision Disorders genetics
Visual Acuity
Young Adult
Eye Diseases, Hereditary diagnosis
Retinal Cone Photoreceptor Cells pathology
Retinal Degeneration diagnosis
Retinal Pigment Epithelium pathology
Vision Disorders diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 2168-6173
- Volume :
- 131
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- JAMA ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 23989059
- Full Text :
- https://doi.org/10.1001/jamaophthalmol.2013.4349