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

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

American journal of ophthalmology - 1 Jun 2018

Stunkel Maria L, Brodie Scott E, Cideciyan Artur V, Pfeifer Wanda L, Kennedy Elizabeth L, Stone Edwin M, Jacobson Samuel G, Drack Arlene V

Abstract excerpt

PURPOSE: GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild retinitis pigmentosa. DESIGN: Retrospective case series. METHODS: Multicenter study of 5 patients (3 male, 2 female). RESULTS: All patients presented...

Read the complete abstract on PubMed

Topics

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

Share to Cone-Rod Dystrophies
Share to Dark Adaptation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Guanylate Cyclase

Share to Leber Congenital Amaurosis

Share to Night Blindness

Share to Refraction, Ocular

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 29559409
DOI: 10.1016/j.ajo.2018.03.021

Genes

FST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.PMID 29559409Read ↗

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.Semantic proximity Read ↗

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.Semantic proximity Read ↗

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.Semantic proximity Read ↗

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.Semantic proximity Read ↗

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.Semantic proximity Read ↗

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal DisorderSemantic proximity Read ↗

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.Semantic proximity Read ↗

Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.Semantic proximity Read ↗

Leber congenital amaurosis caused by mutations in GUCY2D.Semantic proximity Read ↗

Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.Semantic proximity Read ↗

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.Semantic proximity Read ↗

Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.Semantic proximity Read ↗

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