SNP Shot: Genomic Insights

Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (RAMSVPS) is a rare condition impacting both the eyes and heart, specifically the blood vessels within them. Symptoms and signs usually appear during infancy or childhood.

In RAMSVPS, the arteries supplying the retina (the light-sensitive tissue at the back of the eye) are affected. The arteries gradually exhibit a beaded appearance with small bulges. Over time, larger balloon-like outpouchings, known as macroaneurysms, form in the artery walls. These macroaneurysms are prone to rupture, causing bleeding within the eye. This bleeding can spread and lead to impaired vision or vision loss.

Individuals with RAMSVPS also experience supravalvular pulmonic stenosis, a heart defect. Pulmonic stenosis refers to a narrowing of the pulmonic valve, which regulates blood flow between the heart and lungs. "Supravalvular" indicates that the narrowing occurs just above the valve, within the pulmonary artery. This narrowing obstructs blood flow to the lungs, hindering the process of oxygenating the blood. Consequently, the body receives less oxygen, resulting in symptoms such as shortness of breath, rapid heart rate, tiredness, and swelling in the face, feet, or abdomen.

Inheritance:

RAMSVPS follows an autosomal recessive inheritance pattern. This means an affected individual must inherit two copies of the mutated gene, one from each parent. The parents, who each carry only one copy of the mutated gene, are usually unaffected and do not display symptoms of the condition.