Back to Journals » Clinical Ophthalmology » Volume 4

Monozygotic twins with polypoidal choroidal vasuculopathy

Authors Machida S, Takahashi T, Gotoh N, Yoshimura N, Fujiwara T, Kurosaka D

Published 14 July 2010 Volume 2010:4 Pages 793—800


Review by Single-blind

Peer reviewer comments 3

Shigeki Machida1, Tomomi Takahashi1, Norimoto Gotoh2, Nagahisa Yoshimura2, Takamitsu Fujiwara1, Dajiro Kurosaka1

1Department of Ophthalmology, Iwate Medical University School of Medicine, 2Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine

Purpose: To present the first findings in the set of monozygotic twins with polypoidal ­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 ­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

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF] 


Other articles by this author:

Retinal ganglion cell function after repeated intravitreal injections of ranibizumab in patients with age-related macular degeneration

Nishimura T, Machida S, Harada T, Kurosaka D

Clinical Ophthalmology 2012, 6:1073-1082

Published Date: 13 July 2012

Choroidal findings in idiopathic uveal effusion syndrome

Harada T, Machida S, Fujiwara T, Nishida Y, Kurosaka D

Clinical Ophthalmology 2011, 5:1599-1601

Published Date: 9 November 2011

Ophthalmoplegia associated with transorbital penetrating brainstem injury by broken fishing pole

Kaneko-Ohtaki A, Machida S, Sugawara T, Kurosaka D

Clinical Ophthalmology 2011, 5:927-929

Published Date: 7 July 2011

Vitreous levels of vascular endothelial growth factor in eyes with anterior hyaloidal fibrovascular proliferation

Takaki Kobayashi, Shigeki Machida, Takamitsu Fujiwara, et al

Clinical Ophthalmology 2010, 4:1043-1046

Published Date: 17 September 2010

Readers of this article also read:

Green synthesis of water-soluble nontoxic polymeric nanocomposites containing silver nanoparticles

Prozorova GF, Pozdnyakov AS, Kuznetsova NP, Korzhova SA, Emel’yanov AI, Ermakova TG, Fadeeva TV, Sosedova LM

International Journal of Nanomedicine 2014, 9:1883-1889

Published Date: 16 April 2014

Methacrylic-based nanogels for the pH-sensitive delivery of 5-Fluorouracil in the colon

Ashwanikumar N, Kumar NA, Nair SA, Kumar GS

International Journal of Nanomedicine 2012, 7:5769-5779

Published Date: 15 November 2012

A novel preparation method for silicone oil nanoemulsions and its application for coating hair with silicone

Hu Z, Liao M, Chen Y, Cai Y, Meng L, Liu Y, Lv N, Liu Z, Yuan W

International Journal of Nanomedicine 2012, 7:5719-5724

Published Date: 12 November 2012

Cross-linked acrylic hydrogel for the controlled delivery of hydrophobic drugs in cancer therapy

Deepa G, Thulasidasan AK, Anto RJ, Pillai JJ, Kumar GS

International Journal of Nanomedicine 2012, 7:4077-4088

Published Date: 27 July 2012

Crystallization after intravitreal ganciclovir injection

Pitipol Choopong, Nattaporn Tesavibul, Nattawut Rodanant

Clinical Ophthalmology 2010, 4:709-711

Published Date: 14 July 2010