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Autosomal dominant neovascular inflammatory vitreoretinopathy — a case series
Affiliations- Department of General Ophthalmology and Pediatric Ophthalmology Service, Medical University of Lublin, Lublin, Poland
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Abstract
The objective of our study was to report the course of the disease in a family affected with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV, OMIM#193235). ADNIV is a very rare inherited blinding disease due to mutations in CAPN5 gene. We assembled a retrospective observational case series of ADNIV patients. We noticed first symptoms in different ages, similar course of the disease and its progression leading in most cases to complete blindness despite treatment.
Abstract
The objective of our study was to report the course of the disease in a family affected with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV, OMIM#193235). ADNIV is a very rare inherited blinding disease due to mutations in CAPN5 gene. We assembled a retrospective observational case series of ADNIV patients. We noticed first symptoms in different ages, similar course of the disease and its progression leading in most cases to complete blindness despite treatment.
Keywords
autosomal dominant neovascular inflammatory vitreoretinopathy; ADNIV; uveitis; neovascularization; proliferative vitreoretinopathy; cystoid macular edema; CAPN5; calpain-5
About this articleTitle
Autosomal dominant neovascular inflammatory vitreoretinopathy — a case series
Journal
Issue
Vol 4 (2019): Continuous Publishing
Article type
Case report
Pages
31-39
Published online
2019-05-21
Page views
604
Article views/downloads
622
DOI
Bibliographic record
Ophthalmol J 2019;4:31-39.
Keywords
autosomal dominant neovascular inflammatory vitreoretinopathy
ADNIV
uveitis
neovascularization
proliferative vitreoretinopathy
cystoid macular edema
CAPN5
calpain-5
Authors
Małgorzata A. Kowalczyk
Robert Rejdak
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