Eye diseases

Genetic testing in ophthalmology   

More than 1,200 genetic eye diseases are currently known, most of which are polygenic.  Their symptoms are often similar and overlap and therefore it is very difficult to make an accurate diagnosis on the basis of these symptoms.

In the case of eye diseases, rapid diagnosis is very important. Only early detection and early treatment can prevent or stop the process of destruction of the optic nerve that takes place, for example, in glaucoma.
Genetic testing provides carriers of genetic variants (known as polymorphisms), increasing the risk of developing age-related macular degeneration (AMD), with information that they have indications to limit sunlight exposure, introduce an appropriate diet and, if they smoke, to quit. It is advisable to have regular ophthalmological check-ups and to perform the Amsler test (testing vision with a grid of horizontal and vertical lines).
Effective treatment with VEGF inhibitors is available for AMD.
 
Gene therapies are being developed to ‘fix’ the mutated genes responsible for the onset of the disease. The greatest successes have been reported in the treatment of Leber congenital blindness due to mutations in the RPE65 gene. Patients began to see and distinguish larger objects after receiving the therapy, which dramatically improved their quality of life.  From January 2025, gene therapy for patients aged four to 35 years with Leber congenital blindness, caused by biallelic mutations of the RPE65 gene, is reimbursed in Poland.

Genetic testing is the future of ophthalmology. Through the use of genetic testing in medical practice, the doctor has a tool to make or confirm a diagnosis, to determine the possible course and risk of a disease in offspring, in certain diseases to propose a targeted treatment. It is also important to be able to prepare patients for life with the disease (i.e. choosing the right school, activities, etc.).

Our offer includes genetic testing for the following entities:



Age-related macular degeneration (AMD) in developed countries is one of the most common causes of sight loss.
It involves testing for genetic variants in 30 genes to establish a polygenic risk score for AMD (by NGS sequencing).
 It also assesses known polymorphisms that increase AMD risk in the CFH and ARMS2 genes (test code AMD-PRS).