This clinic aims to provide more accurate diagnoses of hereditary and genetic eye diseases and optimize patient care. It offers genetic consultation and guidance for referred cases, determining whether molecular diagnostic tests would be beneficial for ongoing care of the individual and their relatives. Based on this assessment, appropriate tests are selected and prescribed, and the patient is guided in choosing a suitable laboratory.
Once the tests are completed, interpreting the results often requires advanced probabilistic analysis using specialized genetic software and databases. The test outcomes include genetic variations, which must be evaluated for their potential pathogenicity. With these results and clinical findings, the most accurate possible diagnosis can be made. Based on this, detailed counseling is provided regarding disease prognosis and progression, marriage and childbearing considerations, career selection, disease monitoring, and symptom management for the individual or their family.
It is important to note that in some cases, genetic testing can be conducted even in the absence of clinical symptoms if early detection is deemed beneficial.