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Graefe's Archive for Clinical and Experimental Ophthalmology

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01.02.2011 | Retinal Disorders

A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome

verfasst von: Amândio Rocha-Sousa, Takaaki Hayashi, Nuno Lourenço Gomes, Susana Penas, Elisete Brandão, Paulo Rocha, Mitsuyoshi Urashima, Hisashi Yamada, Hiroshi Tsuneoka, Fernando Falcão-Reis

Erschienen in: Graefe's Archive for Clinical and Experimental Ophthalmology | Ausgabe 2/2011

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Abstract

Background

Enhanced S-cone syndrome (ESCS) is an autosomal recessive retinal disorder characterized by an increased number of S-cones over L/M cones and rods. Mutations in the NR2E3 gene, encoding a photoreceptor-specific nuclear receptor, are identified in patients with ESCS. The purpose of this study is to report the ophthalmic features of a 25-year-old Portuguese male with a typical ESCS phenotype and a novel homozygous NR2E3 mutation.

Methods

The patient underwent a detailed ophthalmic examination including fundus photography, fluorescein angiography (FAF), fundus autofluorescence imaging (FAI), and spectral domain optical coherence tomography (SD-OCT). Full-field electroretinography (ERG), S-cone ERG, and multifocal ERG were performed. Mutation screening of the NR2E3 gene was performed with polymerase chain reaction amplification and direct sequencing.

Results

The patient had poor visual acuity but good color vision. Funduscopy showed degenerative changes from the vascular arcades to the midperipheral retina. The SD-OCT revealed macular schisis and cystoid changes that had no fluorescein leakage. The posterior pole showed diffusely increased autofluorescence compared with eccentric areas in both eyes. International-standard full-field ERG showed the typical pathognomonic changes associated with ESCS and the short-wavelength flash ERG was simplified, delayed, and similar to the standard photopic flash ERG. Multifocal ERG showed widespread delay and reduction. Genetic analysis revealed a novel homozygous mutation (p.C83Y), which resides in the second zinc finger of the DNA-binding domain.

Conclusions

This homozygous mutation is likely to affect binding to target DNA sites, resulting in a non-functional behavior of NR2E3 protein. It is associated with a typical form of ESCS with a nondetectable rod response and reduced/delayed mfERG responses at all eccentricities.

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Titel: A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome
verfasst von: Amândio Rocha-Sousa
Takaaki Hayashi
Nuno Lourenço Gomes
Susana Penas
Elisete Brandão
Paulo Rocha
Mitsuyoshi Urashima
Hisashi Yamada
Hiroshi Tsuneoka
Fernando Falcão-Reis
Publikationsdatum: 01.02.2011
Verlag: Springer-Verlag
Erschienen in: Graefe's Archive for Clinical and Experimental Ophthalmology / Ausgabe 2/2011
Print ISSN: 0721-832X
Elektronische ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-010-1482-y

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A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome

Abstract

Background

Methods

Results

Conclusions

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