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

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

Retina (Philadelphia, Pa.) - 1 Mar 2011

Kinnick Tyson R, Mullins Robert F, Dev Sundeep, Leys Monique, Mackey David A, Kay Christine N, Lam Byron L, Fishman Gerald A, Traboulsi Elias, Iezzi Raymond, Stone Edwin M

Abstract excerpt

PURPOSE: To report 11 cases of autosomal recessive vitelliform macular dystrophy and to compare their molecular findings and phenotypic characteristics with those of patients with the more common and well-described dominant form of the disease. METHODS: Blood samples were obtained from 435 unrelated individuals with a clinical diagnosis of vitelliform macular dystrophy and screened for mutations in the coding...

Read the complete abstract on PubMed

Topics

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

Share to Pedigree
Share to Bestrophins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chloride Channels

Share to DNA Mutational Analysis

Share to Eye Proteins

Share to Genes, Recessive

Share to Visual Acuity

Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 21273940
DOI: 10.1097/IAE.0b013e318203ee60

Genes

BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.PMID 21273940Read ↗

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.Semantic proximity Read ↗

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.Semantic proximity Read ↗

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.Semantic proximity Read ↗

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.Semantic proximity Read ↗

NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.Semantic proximity Read ↗

The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.Semantic proximity Read ↗

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.Semantic proximity Read ↗

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.Semantic proximity Read ↗

BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.Semantic proximity Read ↗

New best1 mutations in autosomal recessive bestrophinopathy.Semantic proximity Read ↗

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.Semantic proximity Read ↗

Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.Semantic proximity Read ↗

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