Inherited Eye Disease

Kid getting eyes examinedOphthalmic genetics, the branch of medicine concerned with inherited eye diseases, is a relatively new subspecialty with fewer than 100 practitioners worldwide. In July 2017, the team at UK Advanced Eye Care became home to one of these rare practitioners, Dr. Ramiro Maldonado. Our mission at the Ophthalmic Genetics Clinic is to provide superb care to children, adults and families affected by inherited eye conditions. We have a dedicated team and state-of-the-art technology to better serve you. Some of the conditions that we specialize in:

  • Retinitis pigmentosa.
  • Leber congenital amaurosis (LCA).
  • Usher syndrome.
  • Cone dystrophy.
  • Stargardt disease.
  • Achromatopsia.
  • X-linked retinoschisis.
  • ABCA4 retinopathy.
  • Albinism.
  • Colobomas.
  • Syndromic conditions affecting the eye.

Inherited retinal conditions can significantly affect your vision. The diagnosis of these conditions is complex and often requires specialized testing including electrophysiology and genetic testing. These tests may take up to four hours on your first visit. We can be flexible and split the testing into multiple visits to accommodate your schedule.

About genetic testing

  • Positively impacts individuals and families affected by inherited eye problems.
  • Allows for improved diagnostic accuracy and for better determination of prognosis.
  • Can help reduce the risk of disease recurrence or recurrence in families at risk
  • Facilitates the development of personalized care
  • Allows consideration for therapeutic clinical trials

Clinical trials

During your visit, we will inform you about clinical trials available at our center or other centers across the U.S. This may include stem cell trials or gene therapy trials. At each visit we will update you on the most current research efforts in the field.