Vol 4 (2019): Continuous Publishing
Review paper
Published online: 2019-05-21
Autosomal dominant neovascular inflammatory vitreoretinopathy — a review
DOI: 10.5603/OJ.2019.0002
Ophthalmol J 2019;4:15-21.
Abstract
Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a hereditary autoimmune disorder of the eye caused by mutations in the CAPN5 gene. It is characterized by non-specific uveitis in the anterior chamber and vitreous leading to panuveitis, iris and retinal neovascularization, cystoid macular edema, abnormal retinal pigmentation, vitreous hemorrhage, intraocular fibrosis, membrane formation and tractional retinal detachment. ADNIV is a progressive disease leading to complete blindness despite of treatment. Confirmation is made by genetic analysis demonstrating mutations of the CAPN5 gene.
Keywords: autosomal dominant neovascular inflammatory vitreoretinopathyADNIVuveitisneovascularizationproliferative vitreoretinopathycystoid macular edemaCAPN5calpain-5
References
- Michaelides M, Moore AT. Vitreous. In: Hoyt C, Taylor D. ed. Pediatric Ophthalmology and Strabismus. Elsevier, London 2012: 410–411.
- 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.
- 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.
- Stone EM, Kimura AE, Folk JC, et al. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Human Molecular Genetics. 1992; 1(9): 685–689.
- Sheffield VC, Kimura AC, Folk JC, et al. The gene for autosomal dominant neovascular inflammatory vitreoretinopathy maps to 11q13. AM J Hum Genet. 1992; 51(suppl): A35.
- Mahajan V, Lin J. Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy. Clinical Ophthalmology. 2013: 1339.
- Randazzo NM, Shanks ME, Clouston P, et al. Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes. Ocul Immunol Inflamm. 2017: 1–6.
- Benett R, Folk JC, Kimura AE, et al. Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. BGSPlumX Metrics Ophthalmology. 1990; 97(9): 1125–1136.
- MalaCards: Human Disease Database. https://www.malacards.org/.
- Shields RA, Hao Tang P. Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV). https://eyewiki.aao.org/Autosomal_Dominant_Neovascular_Inflammatory_Vitreoretinopathy_(ADNIV).
- Stone EM, Nichols BE, Streb LM, et al. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet. 1992; 1(4): 246–250.
- 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.
- 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.
- Tlucek PS, Folk JC, Orien JA, et al. Fluocinolone acetonide implant inhibits neovascularization but not fibrosis in autosomal dominant neovascular inflammatory vitreoretinopathy. Arch Ophtalmol. 2013; 130(11).
- Cham A, Bansal M, Banda HK HK, et al. Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy. Clin Ophthalmol. 2016; 10: 1187–1197.
- Rowell HA, Bassuk AG, Mahajan VB. Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy. Clin Ophthalmol. 2012; 6: 2037–2044.
- Mahajan VB, Vallone JG, Lin JH, et al. T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy. Mol Vis. 2010; 16: 1034–1040.
- Schaefer K, Toral M, Velez G, et al. Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses. Invest Opthal Vis Sci. 2016; 57(6): 2509–2521.
- Vitreoretinopathy, neovascular inflammatory; VRNI. https://www.omim.org/entry/193235.
- 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.
- Tlucek PS, Folk JC, Orien JA, et al. Inhibition of neovascularization but not fibrosis with the fluocinolone acetonide implant in autosomal dominant neovascular inflammatory vitreoretinopathy. Arch Ophthalmol. 2012; 130(11): 1395–1401.