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

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2021

Pappalardo Juanita, Heath Jeffery Rachael C, Thompson Jennifer A, Chelva Enid, Pham Quang, Constable Ian J, McLaren Terri L, Lamey Tina M, De Roach John N, Chen Fred K

Abstract excerpt

PURPOSE: The c.1430A > G (Asp477Gly) variant in RPE65 has been reported in Irish and Scottish families with either an autosomal dominant retinal dystrophy (adRD) that resembles choroideremia, a vitelliform macular dystrophy or an isolated macular atrophy. We report novel features on multimodal imaging and the natural history of a family harbouring this variant in combination with the BEST1 c.37C > T (Arg13Cys)...

Read the complete abstract on PubMed

Topics

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

Share to Bestrophins
Share to cis-trans-Isomerases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Fluorescein Angiography

Share to Pedigree

Share to Retinal Dystrophies

Share to Tomography, Optical Coherence

Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 33512609
DOI: 10.1007/s10633-021-09819-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).PMID 33512609Read ↗

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

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.Semantic proximity Read ↗

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathySemantic proximity Read ↗

Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.Semantic proximity Read ↗

BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.Semantic proximity Read ↗

The clinical features of retinal disease due to a dominant mutation in RPE65.Semantic proximity Read ↗

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

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.Semantic proximity Read ↗

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).Semantic proximity Read ↗

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

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

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

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