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

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2021

Oh Daniel J, Daily Mark J, Grassi Michael A

Abstract excerpt

INTRODUCTION: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. CASE PRESENTATION: We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. With 15 years of follow-up for the proband, we illustrate the natural history of CRB1 maculopathy based on clinical examination,...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Eye Proteins
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Macular Degeneration

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Pedigree

Share to Retinal Dystrophies

Source

Identifiers

PMID: 33387055
DOI: 10.1007/s10633-020-09810-y

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 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.PMID 33387055Read ↗

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

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

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

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.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-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.Semantic proximity Read ↗

Long-term follow-up of a CRB1-associated maculopathy.Semantic proximity Read ↗

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

CRB1-Related Maculopathy With Cystoid Macular Edema.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 ↗

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

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