Does Complement Factor H Gene Polymorphism Play a Role in the Regulation of Vascular Tone in the Choroid?

Does Complement Factor H Gene Polymorphism Play a Role in the Regulation of Vascular Tone in the Choroid?

Age related macular degeneration (AMD) is a multifactorial disease with a strong genetic component. Most importantly a genetic polymorphism in the gene encoding for the complement factor H (CFH) has been recently identified which is highly associated with an increased risk of developing AMD. This Tyr402His polymorphism located on chromosome 1q31 has been implicated to play a role in the development of the disease.

Given that it is known that impaired regulation of choroidal vascular tone is present in patients with AMD, the current study seeks to investigate whether the Tyr402His polymorphism is associated with altered choroidal autoregulation in healthy subjects. For this purpose a total of 100 healthy volunteers will be included in order to test the hypothesis that an impaired regulation of choroidal blood flow is present in subjects with homozygous Tyr402His variant.

Inclusion Criteria:

• Men and women aged between 18 and 35 years
• Nonsmokers
• Normal findings in the medical history and physical examination unless the investigator considers an abnormality to be clinically irrelevant
• Normal ophthalmic findings, ametropy less than 3 diopters

Exclusion Criteria:

• Regular use of medication, abuse of alcoholic beverages, participation in a clinical trial in the 3 weeks preceding the study
• Treatment in the previous 3 weeks with any drug
• Symptoms of a clinically relevant illness in the 3 weeks before the first study day
• Blood donation during the previous 3 weeks