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

Amaurosis congénita de Leber RPE-65, seguimiento a 7 años.

Gaceta medica de Mexico - 1 Jan 2000

Sánchez-Ramos Jorge Arturo, Hernández-Vázquez Ángeles Yahel, Ramírez-Estudillo Juan Abel

Abstract excerpt

Leber congenital amaurosis is a retinal dystrophy with several forms of presentation due to its genetic variability. Case of a female girl followed up from 4 to 11 years old is presented, with positive clinical data of nyctalopia, myopia and choroid ocular fundus. Electroretinogram was not measurable in all phases but diagnostic was confirmed by RPE65 mutation genetic study. RPE65 Leber congenital amaurosis is...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to Electroretinography

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

Share to Follow-Up Studies

Share to Fundus Oculi

Share to Leber Congenital Amaurosis

Share to Quality of Life

Share to Time Factors

Source

Identifiers

PMID: 29414951
DOI: 10.24875/GMM.17002945

Genes

RPE65
RPE

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

Amaurosis congénita de Leber RPE-65, seguimiento a 7 años.PMID 29414951Read ↗

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.Semantic proximity Read ↗

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

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.Semantic proximity Read ↗

Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.Semantic proximity Read ↗

RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.Semantic proximity Read ↗

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.Semantic proximity Read ↗

Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.Semantic proximity Read ↗

Leber's congenital amaurosis: an updateSemantic proximity Read ↗

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.Semantic proximity Read ↗

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkSemantic proximity Read ↗

An overview of leber congenital amaurosis: a model to understand human retinal developmentSemantic proximity Read ↗

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.Semantic proximity Read ↗

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