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

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.

American journal of ophthalmology - 1 Feb 2023

Daich Varela Malena, Georgiou Michalis, Alswaiti Yahya, Kabbani Jamil, Fujinami Kaoru, Fujinami-Yokokawa Yu, Khoda Shaheeni, Mahroo Omar A, Robson Anthony G, Webster Andrew R, AlTalbishi Alaa, Michaelides Michel

Abstract excerpt

PURPOSE: To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. DESIGN: Multicenter international retrospective cohort study. METHODS: Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants. Macular optical coherence tomography (OCT) parameters, visual function, fundus...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation

Share to Nerve Tissue Proteins

Share to Phenotype

Share to Retinal Dystrophies

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 36099972
DOI: 10.1016/j.ajo.2022.09.002
PMCID: PMC10555856

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

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.PMID 36099972Read ↗

Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study.Semantic proximity Read ↗

CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.Semantic proximity Read ↗

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.Semantic proximity Read ↗

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.Semantic proximity Read ↗

A clinical and molecular characterisation of CRB1-associated maculopathy.Semantic proximity Read ↗

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.Semantic proximity Read ↗

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.Semantic proximity Read ↗

Unveiling Inflammation-Like Retinal Remodeling in CRB1-Associated Inherited Retinal Dystrophies: Insights From a Multicenter Study.Semantic proximity Read ↗

Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.Semantic proximity Read ↗

CRB1 mutation spectrum in inherited retinal dystrophies.Semantic proximity Read ↗

CRB1 mutations in inherited retinal dystrophies.Semantic proximity Read ↗

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.Semantic proximity Read ↗

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