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Monozygotic twins with polypoidal choroidal vasuculopathy.

ABSTRACT: 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.

SUBMITTER: Machida S

PROVIDER: S-EPMC2915866 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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Monozygotic twins with polypoidal choroidal vasuculopathy.

Machida Shigeki S Takahashi Tomomi T Gotoh Norimoto N Yoshimura Nagahisa N Fujiwara Takamitsu T Kurosaka Dajiro D

Clinical ophthalmology (Auckland, N.Z.) 20100730

<h4>Purpose</h4>To present the first findings in the set of monozygotic twins with polypoidal choroidopathy (PCV).<h4>Methods</h4>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.<h4>Results</h4>Both patients had hemorrhagic pigment epithelial deta ...[more]

PMID: 20689796

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Project description:BACKGROUND:Polypoidal choroidal vasculopathy (PCV) is one of the disorders within the pachychoroid spectrum diseases. The presence of pachyvessels is one of the characteristics of pachychoroid disorders. However, the relationship between the presence of pachyvessels and the clinical characteristics of PCV eyes has not been determined. The purpose of this study was to determine the relationship between the presence of choroidal pachyvessels and the clinical characteristics of eyes with PCV. METHODS:The medical records of patients who were diagnosed with PCV and were treatment-naïve were reviewed. Fluorescein and indocyanine green angiography, fundus photography, spectral domain optical coherence tomography (SD-OCT), and enhanced depth imaging OCT (EDI-OCT) were used to obtain images of the choroid. The presence of pathologically dilated outer choroidal vessels, pachyvessels, was determined by ICGA images. These pachyvessels were confirmed to correspond with the large choroidal vessels in the EDI OCT images. The PCV eyes were divided into two groups based on the presence or absence of pachyvessels and clinical features and subfoveal choroidal thickness (SFCT) were evaluated between the two groups. RESULTS:Eighty-six eyes of 84 patients with PCV were evaluated. Pachyvessels were detected in 48 eyes (55.8%). The mean SFCT was 203.9?±?83.9??m in all 86 eyes, and it was significantly thinner in eyes with pachyvessels (+) than without pachyvessels (-) (183.2?±?58.4??m vs 230.2?±?103.1??m; P =?0.01). The differences in the incidence of subretinal fluid, pigment epithelial detachments, and hemorrhages between the two groups were not significant. However, the PCV eyes in pachyvessels (+) group with hemorrhage had the thinnest choroid (P =?0.047). The choroidal features of the fellow eyes were similar to those of the PCV affected eyes, that is, the fellow eyes in pachyvessels (+) group had pachyvessels and the fellow eyes in pachyvessels (-) group did not have pachyvessels. CONCLUSIONS:Pachyvessels were presented 55.8% in eyes with PCV, and these eyes had the thin SFCT. The presence of pachyvessels and attenuation of the inner choroid were probably due to the pathological changes in the eyes with PCV.

Dataset Information

Monozygotic twins with polypoidal choroidal vasuculopathy.

Publications

Monozygotic twins with polypoidal choroidal vasuculopathy.

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