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

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.

Investigative ophthalmology & visual science - 1 Oct 2008

Jacobson Samuel G, Cideciyan Artur V, Aleman Tomas S, Sumaroka Alexander, Windsor Elizabeth A M, Schwartz Sharon B, Heon Elise, Stone Edwin M

Abstract excerpt

PURPOSE: To study the topography of photoreceptor loss early in the course of Leber congenital amaurosis (LCA) caused by RPE65 mutations. METHODS: Young patients with RPE65-LCA (n = 9; ages, 6-17 years) were studied with optical coherence tomography (OCT) in a wide region of central retina. Outer nuclear layer (ONL) thickness was mapped topographically and compared with that in normal subjects and in older...

Read the complete abstract on PubMed

Topics

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

Share to Blindness
Share to cis-trans-Isomerases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genetic Therapy

Share to Photoreceptor Cells, Vertebrate

Share to Retinal Degeneration

Share to Retinal Ganglion Cells

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 18539930
DOI: 10.1167/iovs.08-2121
PMCID: PMC2731624

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

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.PMID 18539930Read ↗

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

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

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.Semantic proximity Read ↗

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

Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes.Semantic proximity Read ↗

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.Semantic proximity Read ↗

Human cone photoreceptor dependence on RPE65 isomeraseSemantic proximity Read ↗

Retinal Structure in RPE65-Associated Retinal Dystrophy.Semantic proximity Read ↗

Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.Semantic proximity Read ↗

Gene therapy outcomes in young patients with RPE65-retinal degeneration.Semantic proximity Read ↗

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.Semantic proximity Read ↗

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.Semantic proximity Read ↗

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