Inherited Eye Diseases
Ophthalmic genetics is a specialized area of medicine that focuses on eye conditions that run in families. While this field is relatively new, it is highly specialized. Only a small number of ophthalmic genetics experts practice worldwide.
At the Ophthalmic Genetics Clinic, our mission is to provide compassionate care to children, adults and families living with inherited eye conditions.
We know genetic eye diseases can feel complex and overwhelming. We are here to guide you through every step of the process.
We will help you understand your diagnosis, what it means for you and your family, and what options are available moving forward.
Conditions we treat
We provide expert evaluation and ongoing care for a wide range of inherited eye conditions. These include:
- Retinitis pigmentosa (RP)
- Leber congenital amaurosis (LCA)
- Cone and cone-rod dystrophies
- Rod-cone dystrophies
- Stargardt disease (ABCA4-associated maculopathy)
- Best disease (Best vitelliform macular dystrophy)
- Pattern dystrophies
- Choroideremia
- X-linked retinoschisis
- Usher syndrome
- Bardet-Biedl syndrome
- Bietti crystalline dystrophy
- Achromatopsia
- Albinism (oculocutaneous and ocular albinism)
- Retinoschisis (inherited)
- Autosomal dominant optic atrophy
- Other hereditary macular dystrophies
- Other hereditary retinal degenerations
- Mitochondrial optic neuropathies (including LHON)
- Syndromic and non-syndromic genetic eye diseases
- Unexplained childhood-onset vision loss
- Genetic carriers of retinal disease
About genetic testing
Inherited retinal conditions can greatly impact your vision.
They often require specialized testing to reach an accurate diagnosis. We use advanced diagnostic technology to identify these conditions, including tools like electrophysiology and genetic testing.
During your first visit, these tests may take up to four hours. We understand this can make for a long day. We are happy to split the testing across multiple visits to fit your schedule and comfort.
Genetic testing can play an important role in your care by:
- Improving diagnostic accuracy
- Helping determine prognosis
- Identifying risks for other family members
- Supporting personalized care planning
- Determining eligibility for current or future treatment and clinical trials
Clinical trials
During your visit, we will discuss clinical trial opportunities that may be available at UK HealthCare or other institutions across the United States. These may include gene therapy or stem cell-based trials, when appropriate.
At each visit, we strive to keep you informed about the most current research and emerging treatment options in the field.
