Genetics in ophthalmology is developing as rapidly as in other fields of medicine. In eye diseases, genetic tests are used, among others, in the diagnosis of corneal or retinal dystrophy. Detecting mutations in certain genes also helps determine your risk of developing AMD, cataracts, glaucoma, Lowe-Marfan syndrome.

Genetics in ophthalmology is developing as rapidly as in other fields of medicine. Ineye diseases, genetic testsare used, inter alia, in in the diagnosis of corneal dystrophy (in some cases it is the basic test that confirms the diagnosis) or the retina. There is intensive work on gene therapies that aim to "repair" mutated genes and recover patients (e.g. after using gene therapy to treat Leber's congenital blindness - associated with mutations in the RPE65 gene - patients begin to see and distinguish large objects) . While gene therapies are not yet introduced into the routine path of treatment, this is a hopeful future for many patients.

Genetics in ophthalmology

There are over 1200 genetic eye diseases described in the literature. They are often diseases with similar, overlapping symptoms, which is why doctors have a significant problem with making a quick and accurate diagnosis. Currently, we have the opportunity to conduct genetic tests of selected eye diseases, on this basis, for example, the risk of developing age-related macular degeneration (AMD) can be determined.

In ophthalmic diseases it is extremely important to early detect and introduce appropriate treatment delaying the development of the disease, e.g. as in glaucoma - to stop the process of optic nerve degeneration. It is so important because the changes that occur are irreversible and cannot be cured. Doctors, using appropriate therapy, can delay the onset of the full symptoms of the disease, which undoubtedly maintains the patients' quality of life for many years.

Genetics is the future of ophthalmology. There are many indications that genetic testing will become a routine practice in doctor's offices in the near future.

Check what you don't know about glaucoma

Genetic testing, what for?

Genetic testing is a tool that your doctor can use to make predictionsthe patient's prognosis, the onset and course of the disease, adjust the appropriate treatment and finally assess the risk of passing the defective gene on to its descendants. Another argument in favor of carrying out genetic tests, even in incurable diseases - with a risk of blindness - is the possibility of preparing the patient for the future life (interviewing a psychologist, planning the future with the disease, choosing the right school, profession, etc.). Thanks to the knowledge about the predisposition to, for example, AMD, it is possible to significantly reduce the risk of developing the disease before it develops, by:

  • changing the diet - enriching it with antioxidants and unsaturated fatty acids from the omega 3 family;
  • lifestyle change - increasing physical activity and reducing exposure to sunlight;
  • quit smoking;
  • more frequent medical checks (for early detection of changes).

Genetic test result

The result of a specific genetic test does not change, the detected mutation will accompany the patient throughout his life and can be (with different probability) passed on to his offspring. Therefore, the test result may have an impact not only on the life of the person undergoing the test, but also on the lives of their relatives. Therefore, it is important that when deciding to undergo a test, you first seek the advice of a geneticist to be fully aware of the consequences. The doctor (based on family history, medical history, test results, etc.) will best select the appropriate genetic test, often saving the patient's time and money.

Genetic testing for macular degeneration

Age-related macular degeneration ( AMD ) in developed countries is one of the most common causes of blindness in people over 60 years of age. Genetic risk factors include mutations in the CFH and ARMS2 genes. In the case of this disease, it is very important to quickly diagnose, introduce appropriate therapy and change your lifestyle. Carriers of mutations in the CFH and / or ARMS2 genes have indications for regular medical checks and for the Amsler test.

Genetic testing for glaucoma

Primary glaucomamay be a congenital disease of the eyeball with an estimated incidence of 1: 5,000 - 1: 20,000 births. The disease is caused by obstruction of the outflow of fluid from the anterior chamber of the eye, with increased intraocular pressure leading to secondary damage to the optic nerve and blindness. The genetic condition is indicated by mutations in the CYP1B1 genes (the disease appears earlier) and TIGR (the disease appears inlater in life).

Untreated glaucoma will inevitably lead to complete blindness. In people belonging to the highest risk group (carriers of mutations in the CYP1B1 or TIGR genes), it is recommended to conduct intraocular pressure tests up to twice a year, and in others every 2-3 years.

Genetic research towards Lowe's syndrome

Lowe's syndromeis a very rare disease with a population incidence of about 1: 500,000. All patients develop cataracts in utero and are present at birth. Half of the patients suffer from glaucoma (usually detected in the first year of life). In addition to eye diseases, there are also kidney failure and mental disability. Lowe's syndrome is X-linked inheritance, so men usually get the disease. Mutations in the OCRL gene are responsible for the disease.

Genetic testing for Marfan syndrome

Marfan's syndromeis a common disease of the connective tissue, with an incidence of 1: 5,000 - 1: 10,000 births. Among the changes in the organ of vision observed in patients, unilateral or bilateral lens displacements occur in more than half of the patients. Defects such as retinal detachment, myopia, and lens subluxation are also observed. The disease is caused by mutations in the FBN1 gene.

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Eye diseases and vision disorders