Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of ophthalmology - 1 Jul 2007

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

Abstract excerpt

PURPOSE: To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene. DESIGN: Observational case report. METHODS: Clinical examination, optical coherence tomography (OCT), electroretinography (ERG), genetic analysis, and protein homology modeling. RESULTS: Examination of a 9-year-old girl with acute visual loss of the left eye showed visual acuity of 20/30 in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Choroidal Neovascularization
Share to Orphan Nuclear Receptors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Photic Stimulation

Share to Retinal Cone Photoreceptor Cells

Share to Retinal Degeneration

Share to Rod Opsins

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 17601449
DOI: 10.1016/j.ajo.2007.03.012

Genes

ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.PMID 17601449Read ↗

Novel NR2E3 Mutations (R104Q, R334G) Associated with a Mild Form of Enhanced S-Cone Syndrome Demonstrate Compound HeterozygositySemantic proximity Read ↗

Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype.Semantic proximity Read ↗

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric PatientsSemantic proximity Read ↗

A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.Semantic proximity Read ↗

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).Semantic proximity Read ↗

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.Semantic proximity Read ↗

Clinical and molecular characterization of enhanced S-cone syndrome in children.Semantic proximity Read ↗

Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.Semantic proximity Read ↗

Phenotypic features of patients with NR2E3 mutations.Semantic proximity Read ↗

Bilateral Macular Schisis and Progressive Vision Loss in a Young Male with Compound Heterozygous NR2E3 Mutations: A 4-Year Follow-UpSemantic proximity Read ↗

Shared Mutations in NR2E3 in Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Many Cases of Clumped Pigmentary Retinal DegenerationSemantic proximity Read ↗

Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.