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

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.

Investigative ophthalmology & visual science - 1 Jan 2018

Kumaran Neruban, Ripamonti Caterina, Kalitzeos Angelos, Rubin Gary S, Bainbridge James W B, Michaelides Michel

Abstract excerpt

Purpose: RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration. We aim to provide detailed information about how cone dysfunction affects color discrimination. Methods: Seven adults (aged 16-21) with RPE65-LCA underwent monocular color discrimination assessment...

Read the complete abstract on PubMed

Topics

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

Share to Color Perception
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to RPE65 gene

Share to Genetic Variation

Share to Leber Congenital Amaurosis

Share to Retinal Rod Photoreceptor Cells

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 29332120
DOI: 10.1167/iovs.17-22905
PMCID: PMC5769497

Genes

RPE65

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

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.PMID 29332120Read ↗

Male Prevalence of Acquired Color Vision Defects in Asymptomatic Carriers of Leber’s Hereditary Optic NeuropathySemantic proximity Read ↗

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.Semantic proximity Read ↗

[New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations].Semantic proximity Read ↗

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.Semantic proximity Read ↗

Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease.Semantic proximity Read ↗

A Comprehensive Study of the Retinal Phenotype of Rpe65-Deficient Dogs.Semantic proximity Read ↗

Human cone photoreceptor dependence on RPE65 isomeraseSemantic proximity Read ↗

Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.Semantic proximity Read ↗

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.Semantic proximity Read ↗

Quantitative phenotyping of chromatic dysfunction in best macular dystrophy.Semantic proximity Read ↗

Prevalence of Color Vision Defects Among High School Students in Damascus, SyriaSemantic proximity Read ↗

Amaurosis congénita de Leber RPE-65, seguimiento a 7 años.Semantic proximity Read ↗

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