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Diabetic Retinopathy

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...

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Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye

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Published on: September 5, 2011

Monozygotic twins with polypoidal choroidal vasuculopathy.

Shigeki Machida¹, Tomomi Takahashi, Norimoto Gotoh

¹Department of Ophthalmology, Iwate Medical University School of Medicine, Uchimaru Morioka Iwate, Japan. smachida@iwate-med.ac.jp

Clinical Ophthalmology (Auckland, N.Z.)

|August 7, 2010

Summary

This study examines monozygotic twins with polypoidal choroidopathy (PCV), revealing shared genetic risk factors and disease progression. Genetic analysis suggests these factors influence clinical presentation and treatment response in PCV.

Keywords:

ARMS2 CFH PCV monozygotic twins polypoidal choroidal vasculopathy

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Area of Science:

Ophthalmology
Genetics
Retinal Diseases

Background:

Polypoidal choroidopathy (PCV) is an exudative macular disease.
Understanding the genetic basis of PCV is crucial for developing targeted therapies.

Observation:

The study observed monozygotic twin sisters diagnosed with typical PCV.
Both twins presented with hemorrhagic pigment epithelial detachments and characteristic polypoidal structures on angiography.
Clinical concordance in disease progression and poor response to treatments were noted.

Findings:

Genetic analysis revealed homozygous risk alleles for ARMS2 A69S and heterozygous risk alleles for CFH I62V and CFH Y402H in both twins.
The findings suggest a strong genetic predisposition and influence on the clinical phenotype of PCV.

Implications:

This case highlights the significant role of specific genetic factors in the pathogenesis and clinical course of PCV.
Further research into these genetic associations may lead to improved diagnostic and therapeutic strategies for PCV.