open access

Vol 4 (2019): Continuous Publishing
CASE REPORTS
Published online: 2019-05-21
Get Citation

Autosomal dominant neovascular inflammatory vitreoretinopathy — a case series

Małgorzata A. Kowalczyk, Robert Rejdak
DOI: 10.5603/OJ.2019.0003
·
Ophthalmol J 2019;4:31-39.

open access

Vol 4 (2019): Continuous Publishing
CASE REPORTS
Published online: 2019-05-21

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.

Get Citation

Keywords

autosomal dominant neovascular inflammatory vitreoretinopathy; ADNIV; uveitis; neovascularization; proliferative vitreoretinopathy; cystoid macular edema; CAPN5; calpain-5

About this article
Title

Autosomal dominant neovascular inflammatory vitreoretinopathy — a case series

Journal

Ophthalmology Journal

Issue

Vol 4 (2019): Continuous Publishing

Pages

31-39

Published online

2019-05-21

DOI

10.5603/OJ.2019.0003

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

References (13)
  1. Michaelides M, Moore AT. Vitreous. In: Hoyt C, Taylor D. ed. Pediatric Ophthalmology and Strabismus. Elsevier, London 2012: 410–411.
  2. Bassuk A, Yeh S, Wu S, et al. Structural Modeling of a Novel CAPN5 Mutation that Causes Uveitis and Neovascular Retinal Detachment. PLOS ONE . 2015; 10(4): e0122352.
  3. Mahajan V, Skeie J, Bassuk A, et al. Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration. PLoS Genetics. 2012; 8(10): e1003001.
  4. Benett R, Folk JC, Kimura AE, et al. Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. BGSPlumX Metrics Ophthalmology. 1990; 97(9): 1125–1136.
  5. MalaCards: Human Disease Database. https://www.malacards.org/.
  6. Cham A, Bansal M, Banda HK, et al. Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy. Clin Ophthalmol . 2016; 10: 187–1197.
  7. Wert KJ, Skeie JM, Bassuk AG, et al. Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina. Human Molecular Genetics. 2013; 23(10): 2665–2677.
  8. Vitreoretinopathy, neovascular inflammatory; VRNI. https://www.omim.org/entry/193235.
  9. Mahajan VN, Folk JC, Fingert JH, et al. ARVO Annual Meeting. Genetic analysis and phenotypic staging of autosomal dominant neovascular inflammatory vitreoretinopathy. Invest Ophthalmol Visual Sci. 2011; 52(62): A175.
  10. Rowell HA, Bassuk AG, Mahajan VB, et al. Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy. Clin Ophthalmol. 2012; 6: 2037 –2044.
  11. Wert K, Bassuk A, Wu WH, et al. CAPN5mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model. Human Molecular Genetics. 2015; 24(16): 4584–4598.
  12. Mahajan V, Lin J. Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy. Clin Ophthal. 2013; 1339.
  13. Tlucek P, Folk J, Orien J, et al. Inhibition of Neovascularization but Not Fibrosis With the Fluocinolone Acetonide Implant in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. Arch Ophthalmol. 2012; 130(11): 1395.

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

VM Media sp. z o.o. VM Group sp.k., Grupa Via Medica, 73 Świętokrzyska St., 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail: viamedica@viamedica.pl