Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

Hannah A Rowell,1,2 Alexander G Bassuk,3,4 Vinit B Mahajan1,21Omics Laboratory, 2Department of Ophthalmology and Visual Sciences, 3Department of Pediatrics, 4Department of Neurology, University of Iowa, Iowa City, IA, USABackground: The purpose of this study was to describe the clinical findings in...

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Autores principales:	Rowell HA, Bassuk AG, Mahajan VB
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2012
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/dd59f4c5893d448db3aed0856a808c94
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spelling	oai:doaj.org-article:dd59f4c5893d448db3aed0856a808c942021-12-02T02:32:33ZMonozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy1177-54671177-5483https://doaj.org/article/dd59f4c5893d448db3aed0856a808c942012-12-01T00:00:00Zhttp://www.dovepress.com/monozygotic-twins-with-capn5-autosomal-dominant-neovascular-inflammato-a11696https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Hannah A Rowell,1,2 Alexander G Bassuk,3,4 Vinit B Mahajan1,21Omics Laboratory, 2Department of Ophthalmology and Visual Sciences, 3Department of Pediatrics, 4Department of Neurology, University of Iowa, Iowa City, IA, USABackground: The 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.Methods: A 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.Results: Both 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&gt;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.Conclusion: There 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.Keywords: autosomal dominant neovascular inflammatory vitreoretinopathy, ADNIV, CAPN5, calpain-5, monozygotic twinsRowell HABassuk AGMahajan VBDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2012, Iss default, Pp 2037-2044 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Rowell HA Bassuk AG Mahajan VB Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
description	Hannah A Rowell,1,2 Alexander G Bassuk,3,4 Vinit B Mahajan1,21Omics Laboratory, 2Department of Ophthalmology and Visual Sciences, 3Department of Pediatrics, 4Department of Neurology, University of Iowa, Iowa City, IA, USABackground: The 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.Methods: A 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.Results: Both 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&gt;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.Conclusion: There 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.Keywords: autosomal dominant neovascular inflammatory vitreoretinopathy, ADNIV, CAPN5, calpain-5, monozygotic twins
format	article
author	Rowell HA Bassuk AG Mahajan VB
author_facet	Rowell HA Bassuk AG Mahajan VB
author_sort	Rowell HA
title	Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
title_short	Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
title_full	Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
title_fullStr	Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
title_full_unstemmed	Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy
title_sort	monozygotic twins with capn5 autosomal dominant neovascular inflammatory vitreoretinopathy
publisher	Dove Medical Press
publishDate	2012
url	https://doaj.org/article/dd59f4c5893d448db3aed0856a808c94
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_version_	1718402442764222464

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

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