Type of test Blood

Normal findings

No mutation noted

Test explanation and related physiology

 Age-related macular degeneration (ARMD) is recognized as a leading cause of blindness in the United States. Blurred or distorted vision and difficulty adjusting to dim light are common symptoms. ARMD, both wet and dry types, is considered a multifactorial disorder because it is thought to develop because of an interplay between environmental (smoking) and genetic (gender, ethnicity) risk and protective (antioxidants) factors. At least two genetic variants (Y402H and A69S) have been found to be associated with an increased risk for ARMD. The Y402H and the A69S genetic variants are common polymorphisms in ARMD. An individual with two copies of the Y402H variant in the gene CFH and two copies of the A69S variant in the gene LOC387715 has an approximately 60-fold increased risk for ARMD. This is significant, given how common ARMD is in the general population.

This information can be clinically useful when making medical management decisions (e.g., the use of inflammatory markers) and emphasizing to patients the benefits of smoking cessation and dietary modification. In some cases, genotype information may also assist with clinical diagnosis.

Procedure and patient care

• See inside front cover for Routine Blood Testing.

• Fasting: no

 • Blood tube commonly used: lavender or yellow

Abnormal findings

 Increased risk of ARMD