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

An early onset cone dystrophy due to CEP290 mutation: a case report.

Documenta ophthalmologica. Advances in ophthalmology - 1 Dec 2023

Binder Anastasia, Kohl Susanne, Grasshoff Ute, Schäferhoff Karin, Stingl Katarina

Abstract excerpt

PURPOSE: Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a juvenile retinal dystrophy caused by biallelic CEP290 mutations imitating initially the phenotype of achromatopsia or slowly progressing cone dystrophy. METHODS: We present 13 years of follow-up of a female patient...

Read the complete abstract on PubMed

Topics

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

Share to Color Vision Defects
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Retinal Dystrophies

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 37642804
DOI: 10.1007/s10633-023-09940-z
PMCID: PMC10638109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An early onset cone dystrophy due to CEP290 mutation: a case report.PMID 37642804Read ↗

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.Semantic proximity Read ↗

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild PhenotypeSemantic proximity Read ↗

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.Semantic proximity Read ↗

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.Semantic proximity Read ↗

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.Semantic proximity Read ↗

Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.Semantic proximity Read ↗

Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.Semantic proximity Read ↗

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.Semantic proximity Read ↗

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290Semantic proximity Read ↗

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.Semantic proximity Read ↗

CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.Semantic proximity Read ↗

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.Semantic proximity Read ↗

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