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

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.

Translational vision science & technology - 5 Feb 2021

Roshandel Danial, Thompson Jennifer A, Heath Jeffery Rachael C, Sampson Danuta M, Chelva Enid, McLaren Terri L, Lamey Tina M, De Roach John N, Durkin Shane R, Chen Fred K

Abstract excerpt

Purpose: Biallelic crumbs cell polarity complex component 1 (CRB1) mutations can present as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or cystic maculopathy. This study reports a novel phenotype of asymptomatic fenestrated slit maculopathy (AFSM) and examines macular volume profile and microperimetry as clinical trial end points in CRB1-associated retinopathies. Methods: Twelve patients from...

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 Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nerve Tissue Proteins

Share to Phenotype

Share to Retina

Share to Retinitis Pigmentosa

Share to Visual Field Tests

Source

Open in PubMed Open full text

Identifiers

PMID: 34003923
DOI: 10.1167/tvst.10.2.38
PMCID: PMC7910635

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

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.PMID 34003923Read ↗

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

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

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

Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.Semantic proximity Read ↗

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

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

Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.Semantic proximity Read ↗

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

CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.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.