NDLI: Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

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Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Cima, Ivan Brecelj, Jelka Sustar, Maja Coppieters, Frauke Leroy, Bart P. De Baere, Elfride Hawlina, Marko
Description	Country affiliation: Croatia Author Affiliation: Cima I ( University Eye Clinic, University Hospital Sveti Duh, 11. Podbrezje 26A, 10020 Zagreb, Croatia. dr.cima@gmail.com)
Abstract	We present ophthalmic features and genetic analysis findings of a 44-year-old croatian patient with enhanced S-cone syndrome (ESCS). Complete ophthalmic examination, Ishihara colour vision test, dark adaptometry, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging, Goldmann visual field and automated perimetry, full-field electroretinography (ERG), multifocal ERG, S-cone ERG and ON-OFF ERG were performed. Mutation screening of the NR2E3 gene, which encodes a photoreceptor-specific orphan nuclear receptor, was performed with polymerase chain reaction amplification and direct sequencing. The patient has good visual acuity and normal colour vision. Fundus examination showed normal posterior pole and nummular pigment depositions at the level of the retinal pigment epithelium in the mid-periphery of the retina. The SD-OCT images showed normal macular structure and thickness. The ERG showed characteristic findings: photopic and scotopic responses to the same stimulus had a similar waveform and were dominated by short-wavelength-sensitive mechanisms. Mutation analysis revealed the known NR2E3 mutation c.481delA (p.Thr161HisFsX18) and the novel NR2E3 variant c.1120C > T (p.Leu374Phe). To the best of our knowledge, this is the only ESCS patient older than 40 years who phenotypically has preserved macular structure, good central visual acuity and severely depressed full-field ERG as well as the first reported patient with NR2E3 mutation from Croatia.
File Format	HTM / HTML
ISSN	00124486
Issue Number	2
Volume Number	125
e-ISSN	15732622
Journal	Documenta Ophthalmologica
Language	English
Publisher	Springer
Publisher Date	2012-10-01
Publisher Place	Netherlands
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Ophthalmology Macula Lutea Physiopathology Retinal Cone Photoreceptor Cells Pathology Retinal Degeneration Diagnosis Visual Acuity Adult Electroretinography Female Fluorescein Angiography Fundus Oculi Humans Ophthalmoscopy Syndrome Tomography, Optical Coherence Visual Field Tests Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Ophthalmology Physiology (medical) Sensory Systems

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