SNP Shot: Genomic Insights

Vitelliform macular dystrophy is an inherited eye condition that can lead to progressive vision decline. This condition impacts the retina, the light-sensitive tissue at the back of the eye. It particularly affects the macula, a small area in the retina's center crucial for sharp central vision used for activities like reading, driving, and facial recognition.

In vitelliform macular dystrophy, a fatty yellow substance called lipofuscin accumulates in cells beneath the macula. The buildup of lipofuscin damages these critical cells, impairing clear central vision. Consequently, individuals with this disorder often experience central vision loss, potentially leading to blurry or distorted eyesight. Typically, side (peripheral) vision and night vision remain unaffected.

Scientists have identified two forms of vitelliform macular dystrophy with comparable characteristics. Best disease, the early-onset form, generally manifests during childhood, with varying symptom onset and vision loss severity. The adult-onset form appears later, usually in middle age, and is associated with a gradual decline in vision. Both forms display distinct changes in the macula detectable during an eye exam.

Inheritance:

Best disease follows an autosomal dominant inheritance pattern, meaning only one copy of the mutated gene in each cell is enough to cause the disease. Most individuals with Best disease have an affected parent. The inheritance pattern of adult-onset vitelliform macular dystrophy is less clear. While some research suggests an autosomal dominant inheritance, confirmation is challenging because many affected individuals lack a family history of the condition, and only a few affected families have been documented.