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-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes.

Journal of pediatric ophthalmology and strabismus - 12 Mar 2020

Paolacci Stefano, Iarossi Giancarlo, Gusson Elena, Maltese Paolo Enrico, Dallavilla Tiziano, Fanelli Francesca, Zulian Alessandra, Cerra Davide, Unfer Vittorio, Marchini Giorgio, Bertelli Matteo

Abstract excerpt

Cystic maculopathy has been associated with genetic disorders such as retinitis pigmentosa, X-linked retinoschisis, cone dystrophy, and foveal retinoschisis. Familial foveal retinoschisis was recently described as a rare disease caused by CRB1 variants. The authors report the phenotype-genotype pattern of a pair of dizygotic twins with early-onset cystic maculopathy due to CRB1 pathogenic variants. The twins were...

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 Fertilization in Vitro

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation, Missense

Share to Nerve Tissue Proteins

Share to Oocytes

Share to Retinoschisis

Share to Twins, Dizygotic

Source

Identifiers

PMID: 32176805
DOI: 10.3928/01913913-20200204-02

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

CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes.PMID 32176805Read ↗

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 ↗

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

A clinical and molecular characterisation of CRB1-associated 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 ↗

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 ↗

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

A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.Semantic proximity Read ↗

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants.Semantic proximity Read ↗

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

Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.Semantic proximity Read ↗

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