SNP Shot: Genomic Insights

Stargardt macular degeneration is an inherited eye disease leading to gradual vision decline. It impacts the retina, the light-sensitive layer at the back of the eye crucial for sight. More precisely, it affects the macula, a small region in the center of the retina. The macula is essential for clear central vision, necessary for activities like reading, driving, and facial recognition. A key feature of Stargardt macular degeneration is the accumulation of lipofuscin, a yellowish fatty substance, in cells beneath the macula. This build-up progressively damages cells vital for sharp central vision. Besides central vision loss, individuals with Stargardt macular degeneration often experience difficulties with night vision, making it challenging to see in dim lighting. Color vision can also be affected in some cases. The symptoms of Stargardt macular degeneration usually manifest between late childhood and early adulthood and worsen progressively.

Inheritance:

The inheritance of Stargardt macular degeneration varies. When caused by mutations in the ABCA4 gene, it follows an autosomal recessive inheritance pattern. This means that both copies of the ABCA4 gene must have mutations for the condition to develop. In this case, each parent of an affected individual carries one mutated copy of the gene but usually exhibits no symptoms themselves. Conversely, when the ELOVL4 gene is mutated, the condition is inherited in an autosomal dominant pattern. Only one altered copy of the ELOVL4 gene is sufficient to cause Stargardt macular degeneration.