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Genetic Testing / Inherited Diseases

A genetic disorder can be a stressful possibility as many of these conditions have no cure. Genetic testing has advanced substantially in the last several years, allowing us to provide in office testing for over 250 eye diseases like Stargardts disease, Retinitis Pigmentosa, and Cone-Rod dystrophies. Genetic testing can help confirm a familial disorder and provide you with a long-term visual prognosis, carrier status for family planning, and clinical trial / treatment options. 

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Genetic Testing

A simple in-office mouth swab can be the answer to a mystery eye disease. If our provider believes your disease may be genetic in nature, our staff will complete an in depth questionnaire and collect your sample same day. Results are usually processed for 1-3 months. Our providers will contact you via Telehealth to discuss your results and any additional testing or treatment that may be required. 

Age-Related Macular Degeneration Genes

If you have a family history of macular degeneration, or early macular degeneration yourself, we offer risk-stratification genetic testing to determine both the risk and speed of your disease. Patients who are concerned about a strong family history of macular degeneration can contact our clinic for an evaluation and genetic testing to determine their overall risk profile. 

Our practitioners will recommend follow up and treatment accordingly. 

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Multi-Modal Imaging

Our imaging teams can perform a variety of specialized photos - which are key to identifying retinal patterns suggestive of an inherited disorder. This includes optical coherence tomography, autoflouresence imaging, optic nerve imaging, flourescein and indocyanine angiography, optical coherence tomography angiography, wide-field fundus photography, and humphrey visual fields. 

Familial Evaluations

If you are or have been diagnosed with an inherited retinal disease - our team will offer to examine all at-risk family members. 

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