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

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.

American journal of ophthalmology - 1 Dec 2023

Daich Varela Malena, Wong Shiao Wei, Kiray Gulunay, Schlottmann Patricio G, Arno Gavin, Shams Amjaad N Abu, Mahroo Omar A, Webster Andrew R, AlTalbishi Alaa, Michaelides Michel

Abstract excerpt

PURPOSE: To present the clinical characteristics, retinal features, natural history, and genetics of ADGRV1-Usher syndrome (USH). DESIGN: Multicenter international retrospective cohort study. METHODS: Clinical notes, hearing loss history, multimodal retinal imaging, and molecular diagnosis were reviewed. Thirty patients (28 families) with USH type 2 and disease-causing variants in ADGRV1 were identified. Visual...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Retina

Share to Usher Syndromes

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 37422204
DOI: 10.1016/j.ajo.2023.06.026
PMCID: PMC11139646

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.PMID 37422204Read ↗

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.Semantic proximity Read ↗

CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.Semantic proximity Read ↗

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.Semantic proximity Read ↗

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.Semantic proximity Read ↗

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.Semantic proximity Read ↗

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.Semantic proximity Read ↗

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.Semantic proximity Read ↗

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.Semantic proximity Read ↗

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Semantic proximity Read ↗

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.Semantic proximity Read ↗

A novel compound heterozygous variant of MYO7A in Usher syndrome type 1.Semantic proximity Read ↗

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Semantic proximity Read ↗

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