Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene

Byron L Lam; Jeffrey L Goldberg; Kristen L Hartley; Edwin M Stone; Mu Liu

doi:10.1016/j.ajo.2007.03.012

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Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene

Journal article

Peer reviewed

Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene

Byron L Lam, Jeffrey L Goldberg, Kristen L Hartley, Edwin M Stone and Mu Liu

American journal of ophthalmology, Vol.144(1), pp.157-159

07/2007

DOI: 10.1016/j.ajo.2007.03.012

PMID: 17601449

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Abstract

To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene. Observational case report. Clinical examination, optical coherence tomography (OCT), electroretinography (ERG), genetic analysis, and protein homology modeling. Examination of a 9-year-old girl with acute visual loss of the left eye showed visual acuity of 20/30 in the right eye and 20/200 in the left eye; OCT revealed a choroidal neovascular membrane (CNVM) in the left fovea and cystic maculopathy in the right eye. Full-field ERG showed supranormal s-cone responses, reduced rod response, and characteristic ESCS waveform in photopic cone response but not in scotopic bright-flash response. Sequence analysis revealed heterozygous mutations in the NR2E3 gene, c.767C-->T yielding a substitution p.Ala256Val, and a mutation in the splice site before exon 2, c.119-2 A-->C. The p.Ala256Val mutation affects the ligand binding domain of the NR2E3 nuclear receptor only, resulting in modestly impaired ESCS ERG results.

Electroretinography

Retinal Degeneration - genetics

Tomography, Optical Coherence

Humans

Models, Molecular

Receptors, Cytoplasmic and Nuclear - genetics

Retinal Degeneration - physiopathology

Transcription Factors - genetics

Visual Acuity

Retinal Cone Photoreceptor Cells - physiopathology

Syndrome

Rod Opsins - genetics

Polymerase Chain Reaction

Female

Heterozygote

Mutation

Orphan Nuclear Receptors

Photic Stimulation

Child

Choroidal Neovascularization - genetics

Details

Title: Subtitle: Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene
Creators: Byron L Lam - Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida 33136, USA. blam@med.miami.edu
Jeffrey L Goldberg
Kristen L Hartley
Edwin M Stone
Mu Liu
Resource Type: Journal article
Publication Details: American journal of ophthalmology, Vol.144(1), pp.157-159
DOI: 10.1016/j.ajo.2007.03.012
PMID: 17601449
NLM abbreviation: Am J Ophthalmol
ISSN: 0002-9394
eISSN: 1879-1891
Publisher: United States
Grant note: P30 EY014801 / NEI NIH HHS P30-EY014801 / NEI NIH HHS
Language: English
Date published: 07/2007
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980022202771

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