SNP Shot: Genomic Insights

Glaucoma encompasses a collection of eye conditions characterized by progressive damage to the optic nerves, which link the eyes to the brain. This damage can result in a loss of peripheral vision and potentially lead to blindness. Additional symptoms might include protruding eyes, excessive tearing, and increased sensitivity to light (photophobia). Glaucoma appearing before age 40 is often referred to as "early-onset glaucoma."

In the majority of glaucoma cases, the optic nerve damage is attributed to elevated pressure inside the eye (intraocular pressure). This pressure is maintained by a delicate balance between fluid inflow and outflow within the eye.

Glaucoma typically affects older individuals. Factors like high blood pressure (hypertension), diabetes mellitus, and family history can increase the risk of developing the condition. Early-onset glaucoma risk is primarily influenced by genetic factors.

Structural problems hindering fluid drainage in the eye can increase intraocular pressure. These abnormalities may be congenital (present at birth) and usually become noticeable within the first year of life. Such structural issues can be a feature of a syndrome, a genetic condition affecting multiple body systems. When glaucoma develops before age 3 without any other associated abnormalities, it is classified as primary congenital glaucoma.

Some individuals experience early-onset primary open-angle glaucoma, which is the most prevalent form of glaucoma in adults. If primary open-angle glaucoma appears during childhood or early adulthood, it's known as juvenile open-angle glaucoma.

Inheritance:

The inheritance patterns of early-onset glaucoma vary. Primary congenital glaucoma is typically inherited in an autosomal recessive manner, meaning that both copies of a specific gene must carry a mutation for the condition to manifest. In such cases, both parents usually carry one copy of the mutated gene but do not exhibit symptoms of the condition themselves. Juvenile open-angle glaucoma, however, is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene is sufficient to cause the disorder. In certain families, primary congenital glaucoma may also follow an autosomal dominant inheritance pattern.