SNP Shot: Genomic Insights

Fish-eye disease, also known as partial lecithin-cholesterol acyltransferase (LCAT) deficiency, is a condition affecting the eyes. It leads to a gradual clouding of the corneas, the clear outer layer at the front of the eyes. This clouding, usually beginning in the teenage years or early adulthood, is characterized by small, grayish cholesterol deposits (opacities) scattered across the corneas. Cholesterol, a fat-like substance vital for many bodily functions but potentially harmful in excess, is produced by the body and ingested through animal-derived foods. As fish-eye disease progresses, the corneal cloudiness increases, potentially causing significant vision impairment.

Inheritance:

Fish-eye disease is inherited in an autosomal recessive manner. This means that both copies of the responsible gene within each cell must carry mutations for the condition to manifest. Individuals with the disease inherit one mutated gene copy from each parent, who are typically carriers of the mutation but do not exhibit symptoms of the condition themselves.