Hereditary forms of vision loss affect many people across the world. Many types affect children, but people of all ages experiencing certain types of vision loss or eye findings may have an underlying genetic disorder.
For individuals with hereditary eye conditions, identifying ta specific cause through genetic testing may:
路 Clarify a diagnosis and provide information on prognosis,
路 Impact medical management (including frequency of follow-up, use of medications, and/or screening for other features of a condition),
路 Help with identifying other family members at risk by clarifying inheritance patterns,
路 Facilitate potential inclusion in clinical trials, and/or
路 Support the development and delivery of mechanism-specific care & treatments.
Speaking with a genetic counselor can help individuals and families decide whether genetic testing is right for them and what the best test is. Additionally, a genetic counselor can help navigate the psychosocial implications of hereditary conditions and connect people with resources such as support groups and research opportunities. Of particular interest to people who may have inherited retinal diseases (IRDs), e.g., retinitis pigmentosa, Leber Congenital Amaurosis (LCA), or Stargardt disease, are the rapid advances being made in gene therapy. With a number of clinical trials emerging in this area, and the FDA approval of Luxturna to treat RPE65 LCA in 2018, it is an exciting time!
Examples of hereditary ocular conditions include:
Typically, individuals are referred to ocular genetic counseling by an ophthalmologist or optometrist when there is suspicion for a possible hereditary diagnosis, based on the eye exam and symptoms.
Individuals who should consider talking with their eye provider about meeting with a genetic counselor include those who have:
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More Information and Scheduling:
Referrals to our Cardiovascular Genetics program typically come directly from cardiologists, or primary care physicians. If you have questions or would like to be seen in this clinic, please reach out to our Genetics Program: (414) 955-4254.