Why Family History Matters

For World Glaucoma Week, Mona Kaleem on why family history matters with glaucoma…

I began taking care of glaucoma patients well before I even decided on a career in the medical field. My first patient was my grandmother, a woman who had been widowed young and left to raise three children on her own. She overcame these odds and ensured that her children completed Master’s level education. My memories of her are of a woman who carried herself with dignity and maintained her independence into old age, despite developing visual impairment from glaucoma. I used to wonder what the drops that I was placing in her eyes were for, or why she needed me to help her walk in the dimly lit hallways of our house. “Maybe she is scared of monsters in the dark like me”, I used to think as a kid. This became a common occurrence in our family, as I observed similar patterns of vision problems and routinely heard discussions about eye drops among my grand aunts and uncles. I had heard the term “glaucoma” and assumed it was just an eye condition that affected the elderly. That is, until my father and his siblings were diagnosed while still in their 50s. At that point, I realized that glaucoma ran in my family, and I became vigilant about seeing an ophthalmologist annually for an examination and encouraging my family members to do the same.

As an ophthalmology resident, I learned that one of the major risk factors for glaucoma is family history. Our knowledge of glaucoma genetics is constantly evolving, but we know that there are at least ten well characterized glaucoma genes and more than 80 loci that are being studied. Genetic predisposition along with environmental factors can manifest itself into glaucoma, particularly as we age. It is known that family history confers a threefold greater risk, and that glaucoma diagnosis among siblings is especially strong with a two to four times increased risk. Those with a family history also tend to be younger at the time of diagnosis than those who have non-hereditary forms of glaucoma. Unfortunately, the lack of awareness regarding the hereditary nature of this condition among patients varies from 21-68%. Since the primary source of knowledge about family history comes from relatives, many individuals may be going undiagnosed.

Although glaucoma is an irreversible condition, early detection can lead to interventions that would prevent vision loss. In patients with a known family history of glaucoma, knowledge of genetic predisposition may lead to earlier diagnosis. This underscores the need for a glaucoma awareness campaign among relatives. As a grand-daughter, daughter, niece, and glaucoma specialist, I strongly urge all of you to seek information about family medical history from your relatives, and find an eye doctor who can perform the appropriate screening tests.

Image on top: A young boy who has visual impairments due to glaucoma by Tanya Tucker