ArticleClinical ophthalmology (Auckland, N.Z.)2012
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.
Article in Clinical ophthalmology (Auckland, N.Z.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- Article
- Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.Ocular immunology and inflammation · 2024Article
- Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.Biochimica et biophysica acta. Molecular basis of disease · 2023Article
- Simultaneous presentation of idiopathic uveitis in monozygotic 4-year-old twin boys.American journal of ophthalmology case reports · 2022Article
- Long-Term Outcomes and Risk Factors for Severe Vision Loss in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).American journal of ophthalmology · 2022Observational
- Phenotypic variance in Calpain-5 retinal degeneration.American journal of ophthalmology case reports · 2020Article
- Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.EBioMedicine · 2020Article
- CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.Human mutation · 2019Article
- In Vivo Expression of Mutant Calpains in the Eye Using Lentivirus.Methods in molecular biology (Clifton, N.J.) · 2019Article
- An anti-CAPN5 intracellular antibody acts as an inhibitor of CAPN5-mediated neuronal degeneration.Oncotarget · 2017Article
- Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.Clinical ophthalmology (Auckland, N.Z.) · 2016Article
- CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.Human molecular genetics · 2015Article
- Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.PloS one · 2015Article
- CAPN5 gene silencing by short hairpin RNA interference.BMC research notes · 2014Article
- Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.Human molecular genetics · 2014Article
- Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.Clinical ophthalmology (Auckland, N.Z.) · 2013Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe purpose of this study was to describe the clinical findings in a set of monozygotic twins with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) over a 23-year period.
methodsA pair of female twins were examined between 26 and 49 years of age. The concordance and discordance of their clinical features were determined. The CAPN5 gene was sequenced using genomic DNA.
resultsBoth twins of an affected father demonstrated Stage I ADNIV with mild vitreous cells and a negative b-wave on electroretinography. Genetic analysis confirmed a guanine to thymine nucleotide (c.728G>T, pArg243Leu) mutation in the CAPN5 gene. Over the course of 23 years, each twin progressed to stage III disease, showing posterior uveitis, cystoid macular edema, intraocular fibrosis, early retinal neovascularization, retinal degeneration, and cataract. Disease progression varied moderately between each twin and was asymmetrical between eyes. Twin A had 20/70 and 20/125 in the right and left eye, respectively, and underwent vitrectomy surgery and intravitreal injections with bevacizumab for recurrent cystoid macular edema. Twin B maintained 20/20 and 20/40 in the right and left eye, respectively without intervention.
conclusionThere was asymmetry between the eyes and some discordance in the rate of disease progression in these monozygotic twins with ADNIV. The overall high disease concordance suggests genetic factors play a major role in clinical manifestations in CAPN5 vitreoretinopathy.
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