Monozygotic twins with polypoidal choroidal vasuculopathy

Shigeki Machida1, Tomomi Takahashi1, Norimoto Gotoh2, Nagahisa Yoshimura2, Takamitsu Fujiwara1, Dajiro Kurosaka11Department of Ophthalmology, Iwate Medical University School of Medicine, 2Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of MedicinePurpose: To present...

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Autores principales:	Shigeki Machida, Tomomi Takahashi, Norimoto Gotoh, et al
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2010
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/603b968957d746969d126b0ce467a5be
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spelling	oai:doaj.org-article:603b968957d746969d126b0ce467a5be2021-12-02T05:19:11ZMonozygotic twins with polypoidal choroidal vasuculopathy1177-54671177-5483https://doaj.org/article/603b968957d746969d126b0ce467a5be2010-07-01T00:00:00Zhttp://www.dovepress.com/monozygotic-twins-with-polypoidal-choroidal-vasuculopathy-a4826https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Shigeki Machida1, Tomomi Takahashi1, Norimoto Gotoh2, Nagahisa Yoshimura2, Takamitsu Fujiwara1, Dajiro Kurosaka11Department of Ophthalmology, Iwate Medical University School of Medicine, 2Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of MedicinePurpose: To present the first findings in the set of monozygotic twins with polypoidal &shy;choroidopathy (PCV).Methods: Sixty two-year old monozygotic twin sisters were studied. The concordances and discordances of the clinical features of the twins were determined. Genomic DNA was extracted and genotyped for three established PCV risk-associated single nucleotide polymorphisms, viz CFH I62V, CFH Y402H, and ARMS A69S.Results: Both patients had hemorrhagic pigment epithelial detachments with orange lesions beneath the retinal pigment epithelium. Indocyanine green angiography showed pathognomonic choroidal vascular networks with polypoidal structures uniocularly in one twin and binocularly in the other twin. Both twins were treated with photodynamic therapy, retinal photocoagulation, and anti-vascular endothelial growth factor therapy, but both showed limited response to all the treatments, with recurrent exudative lesions with enlarged vascular network, and poor visual outcome. Genetic analyses showed that both sisters had homozygous risk alleles for ARMS2 A69S, and one risk allele each of CFH I62V and CFH Y402H.Conclusions: We present the first findings in a set of monozygotic twins with typical PCV under long-term observation. The concordances in disease progression and response to &shy;treatment between the twins indicate that these genetic factors most likely played important roles in determining the clinical manifestations.Keywords: polypoidal choroidal vasculopathy, PCV, CFH, ARMS2, monozygotic twins Shigeki MachidaTomomi TakahashiNorimoto Gotohet alDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2010, Iss default, Pp 793-800 (2010)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Shigeki Machida Tomomi Takahashi Norimoto Gotoh et al Monozygotic twins with polypoidal choroidal vasuculopathy
description	Shigeki Machida1, Tomomi Takahashi1, Norimoto Gotoh2, Nagahisa Yoshimura2, Takamitsu Fujiwara1, Dajiro Kurosaka11Department of Ophthalmology, Iwate Medical University School of Medicine, 2Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of MedicinePurpose: To present the first findings in the set of monozygotic twins with polypoidal &shy;choroidopathy (PCV).Methods: Sixty two-year old monozygotic twin sisters were studied. The concordances and discordances of the clinical features of the twins were determined. Genomic DNA was extracted and genotyped for three established PCV risk-associated single nucleotide polymorphisms, viz CFH I62V, CFH Y402H, and ARMS A69S.Results: Both patients had hemorrhagic pigment epithelial detachments with orange lesions beneath the retinal pigment epithelium. Indocyanine green angiography showed pathognomonic choroidal vascular networks with polypoidal structures uniocularly in one twin and binocularly in the other twin. Both twins were treated with photodynamic therapy, retinal photocoagulation, and anti-vascular endothelial growth factor therapy, but both showed limited response to all the treatments, with recurrent exudative lesions with enlarged vascular network, and poor visual outcome. Genetic analyses showed that both sisters had homozygous risk alleles for ARMS2 A69S, and one risk allele each of CFH I62V and CFH Y402H.Conclusions: We present the first findings in a set of monozygotic twins with typical PCV under long-term observation. The concordances in disease progression and response to &shy;treatment between the twins indicate that these genetic factors most likely played important roles in determining the clinical manifestations.Keywords: polypoidal choroidal vasculopathy, PCV, CFH, ARMS2, monozygotic twins
format	article
author	Shigeki Machida Tomomi Takahashi Norimoto Gotoh et al
author_facet	Shigeki Machida Tomomi Takahashi Norimoto Gotoh et al
author_sort	Shigeki Machida
title	Monozygotic twins with polypoidal choroidal vasuculopathy
title_short	Monozygotic twins with polypoidal choroidal vasuculopathy
title_full	Monozygotic twins with polypoidal choroidal vasuculopathy
title_fullStr	Monozygotic twins with polypoidal choroidal vasuculopathy
title_full_unstemmed	Monozygotic twins with polypoidal choroidal vasuculopathy
title_sort	monozygotic twins with polypoidal choroidal vasuculopathy
publisher	Dove Medical Press
publishDate	2010
url	https://doaj.org/article/603b968957d746969d126b0ce467a5be
work_keys_str_mv	AT shigekimachida monozygotictwinswithpolypoidalchoroidalvasuculopathy AT tomomitakahashi monozygotictwinswithpolypoidalchoroidalvasuculopathy AT norimotogotoh monozygotictwinswithpolypoidalchoroidalvasuculopathy AT etal monozygotictwinswithpolypoidalchoroidalvasuculopathy
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Monozygotic twins with polypoidal choroidal vasuculopathy

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