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

Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.

Ophthalmic surgery, lasers & imaging retina - 1 Aug 2025

Kikani Bijal A, Ueberroth Jordan A, Christensen Cory A, Breazzano Mark P

Abstract excerpt

CEP290 variants, commonly associated with Leber congenital amaurosis, cause severe visual impairment within the first year of life. Herein, we report a unique case of nonsyndromic retinitis pigmentosa with foveal sparing and preserved central vision in a patient harboring two pathogenic CEP290 variants. A 28-year-old woman presented with longstanding poor peripheral vision and nyctalopia since childhood, but with...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Cell Cycle Proteins
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Neoplasm Proteins

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 40407606
DOI: 10.3928/23258160-20250513-01

Genes

CEP290
BBS5
PDE6A
RPGR

Variants

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

Nonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.PMID 40407606Read ↗

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

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

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.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 ↗

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 ↗

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

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

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.Semantic proximity Read ↗

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

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