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 dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature.

Ophthalmic genetics - 1 Dec 2023

Tabbaa Tarek, Mehra Ankur A, Kesav Natasha P, Mahajan Vinit B, Swanson Roy D, Zubricky Ryan, Sobol Warren M

Abstract excerpt

BACKGROUND: To report a cohort of patients with clinically and genetically diagnosed autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and showcase the spectrum of the disease utilizing multimodal imaging and genetic testing. Additionally, the utility of multimodal imaging in guiding treatment will also be illustrated. MATERIALS/METHODS: Five patients from a single-family pedigree in Ohio with...

Read the complete abstract on PubMed

Topics

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

Share to Fluorescein Angiography
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Retina

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 37782277
DOI: 10.1080/13816810.2023.2255257

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

Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature.PMID 37782277Read ↗

Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.Semantic proximity Read ↗

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.Semantic proximity Read ↗

Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series.Semantic proximity Read ↗

Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.Semantic proximity Read ↗

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.Semantic proximity Read ↗

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.Semantic proximity Read ↗

Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.Semantic proximity Read ↗

Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.Semantic proximity Read ↗

Genetic analysis of a large heterogeneous patient population with Familial Exudative VitreoretinopathySemantic proximity Read ↗

Asymptomatic adults in a single family with familial exudative vitreoretinopathy and TSPAN12 variant.Semantic proximity Read ↗

Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome.Semantic proximity Read ↗

Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.Semantic proximity Read ↗

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