Genes influence a person’s behavioral, psychological and physical characteristics. The same way eye color is determined by genetics, so are the complex traits that may lead to eye disease. The role of genetics in eye conditions operates at 2 levels, the genetic predisposition to certain diseases and the genetic determination of disease. Nearly all common eye diseases, except for trauma to the eye or an acute illness, stem from genetics, with approximately 350 eye diseases attributed to hereditary factors. If your family has a history of eye diseases, you are more likely to develop the same condition.
Mutations that cause disease are associated with ocular conditions such as glaucoma, cataracts, strabismus (misalignment of the eyes), corneal dystrophy, color blindness and various forms of retinal degeneration. Genetic disorders affect a gene’s ability to perform its function properly. Sometimes parents are only genetic carriers, so while they themselves do not have the eye disease, their children will contract it. Other times the disease is passed from generation to generation.
Because many eye diseases present with similar symptoms, in addition to regular eye exams, genetic testing may prove to be beneficial for patients. Genetic testing benefits include answered questions for the patient, conclusive treatment options based on whether the eye disorder is genetic, and the advancement of solutions to genetic eye disorders. When an eye disease is controlled early on, the likelihood of permanent vision loss is significantly reduced. Genetic eye tests focus on the order of nucleotides, the building blocks of DNA and RNA. Results from genetic test findings can include a pathogenic variant meaning a gene that does not work properly that will pose symptoms, a variant of uncertain significance that may lead to other testing methods or a normal result with no genetic diagnosis. If a pathogenic variant is detected, your doctor may suggest gene therapy to replace the defective gene with a copy of a healthy one. Because FDA-approved gene therapy is still a limited resource, early intervention with an annual eye exam is the best place to start to reduce your risk of vision complication.
At Pendleton Eye, the ophthalmologist’s role in the diagnosis and management of genetic disorders can be critical for our patients’ eye health and quality of vision. For this reason, regular eye exams are essential in determining the role of genetics in eye conditions. To schedule a comprehensive eye exam, call 760-758-2008 or book online at WEBSITE.
