ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY
| Autor: | Emma Bedoukian, Katherine E. Uyhazi, Leona W. Serrano, Jessica I. W. Morgan, Robert F. Cooper, Michael J. Ammar, Priyanka Kumar, Kurt T. Scavelli, Ilaina D. Edelstein, Tomas S. Aleman, Grace Vergilio |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
genetic structures 01 natural sciences Article Ophthalmoscopy 03 medical and health sciences 0302 clinical medicine Blurred vision Optical coherence tomography Ophthalmology medicine Supernumerary 0101 mathematics Macular edema Retina medicine.diagnostic_test business.industry 010102 general mathematics General Medicine medicine.disease Fluorescein angiography eye diseases Scanning laser ophthalmoscopy medicine.anatomical_structure 030221 ophthalmology & optometry sense organs medicine.symptom business |
| Zdroj: | Retin Cases Brief Rep |
| ISSN: | 1935-1089 |
| DOI: | 10.1097/icb.0000000000000891 |
| Popis: | PURPOSE: To describe in detail the phenotype of a patient with enhanced S-cone syndrome. METHODS: We describe a 13-year-old boy who presented with blurred vision, vitreous cells, cystoid macular edema refractory to steroid treatment, and a negative uveitic workup. The patient underwent a complete ophthalmic examination, full-field electroretinograms (ffERG), automatic static perimetry and multimodal imaging with spectral domain optical coherence tomography, and adaptive optics scanning laser ophthalmoscopy (AOSLO). RESULTS: Spectral domain optical coherence tomography demonstrated cystoid macular edema and a hyperthick, delaminated midperipheral retina. Fluorescein angiography did not demonstrate macular leakage. Rod-mediated ffERGs were undetectable, and there was a supernormal response to short-wavelength stimuli compared with photopically matched longer wavelengths of light consistent with enhanced S-cone syndrome. Gene screening was positive for compound heterozygous mutations NR2E3: a known (c.119-2 A>C) and a novel (c.119-1G>A) mutation. By perimetry, sensitivities were normal or above normal for short-wavelength stimuli; there was no detectable rod-mediated vision. AOSLO demonstrated higher than normal cone densities in the perifoveal retina and evidence for smaller outer segment cone diameters. CONCLUSION: Evidence for supernumerary cones (at least twice the normal complement) by AOSLO and spectral domain optical coherence tomography was associated with supernormal S-cone sensitivities and electroretinogram responses confirming previous in vivo findings in postmortem human specimens. Smaller than normal cones in enhanced S-cone syndrome may represent “hybrid” photoreceptors analogous to the rd7/rd7 murine model of the disease. |
| Databáze: | OpenAIRE |
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