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

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

American journal of ophthalmology - 1 Mar 2021

Wang Yingwei, Sun Wenmin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

PURPOSE: To reveal the characteristics of ocular changes in patients with biallelic CRB1 mutations. DESIGN: Comparative exome sequencing and retrospective case series on clinical data. METHODS: Seventy-four patients from 63 families with biallelic potential pathogenic variants in CRB1 were selected from our in-house exome sequencing. The clinical data were reviewed and evaluated in detail, including...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fundus Oculi

Share to Geographic Atrophy

Share to Retinal Degeneration

Share to Retinal Pigment Epithelium

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 33342761
DOI: 10.1016/j.ajo.2020.10.006

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

Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.PMID 33342761Read ↗

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

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

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

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.Semantic proximity Read ↗

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

Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.Semantic proximity Read ↗

Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.Semantic proximity Read ↗

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.Semantic proximity Read ↗

Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.Semantic proximity Read ↗

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

Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.Semantic proximity Read ↗

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