Discover Community Create You

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

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.

Investigative ophthalmology & visual science - 1 Oct 2016

Newman Hadas, Blumen Sergiu C, Braverman Itzhak, Hanna Rana, Tiosano Beatrice, Perlman Ido, Ben-Yosef Tamar

Abstract excerpt

PURPOSE: To investigate the genetic basis for severe visual complaints by Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD). METHODS: Polymerase chain reaction amplification and direct sequencing were used to test for NRL, PABPN1, and NR2E3 mutations. Complete ophthalmic examination included best-corrected visual acuity, biomicroscopic examination, optical coherence tomography, and fundus...

Read the complete abstract on PubMed

Topics

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

Share to Basic-Leucine Zipper Transcription Factors
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Fundus Oculi

Share to Retinal Cone Photoreceptor Cells

Share to Retinal Degeneration

Share to Tomography, Optical Coherence

Share to Vision Disorders

Source

Identifiers

PMID: 27732723
DOI: 10.1167/iovs.16-19505

Genes

NRL
ERG
PABPN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.PMID 27732723Read ↗

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 ↗

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone SyndromeSemantic proximity Read ↗

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.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 ↗

Clinical and Molecular Characterization of PROM1 -Related Retinal DegenerationSemantic proximity Read ↗

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

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.Semantic proximity Read ↗

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".Semantic proximity Read ↗

Enhanced S-cone function with preserved rod function: a new clinical phenotype.Semantic proximity Read ↗

Molecular Mechanisms Governing Sight Loss in Inherited Cone DisordersSemantic proximity Read ↗

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and DiseaseSemantic proximity Read ↗

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