EGL Genetics Blog

The Genetic Counselor Corner - Focus on the Eye Clinic

Posted by Eleina Cox on May 19, 2016 11:00:00 AM

To continue our discussion about inherited eye diseases during Healthy Vision Month, I had the pleasure of speaking with Sarah Richards, a clinical genetic counselor who has worked in the Ophthalmic Genetics Clinic at The Emory Eye Clinicfor the last 3 years. Sarah worked under Dr. Suma Shankar, a genetic ophthalmologist who is an Assistant Professor for the Departments of Human Genetics and Ophthalmology at Emory University School of Medicine and serves as the Medical Director for Emory Genetics Laboratory.

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Topics: Inherited Eye Disorders, ocular genetics, genetic counseling

Mother Turned Advocate After Son’s LHON Diagnosis

Posted by Danyella Davis on May 12, 2016 9:00:00 AM

How does a 19-year-old college sophomore go from 20/20 vision to legally blind in 2 months?

 Jeremy Poincenot, a San Diego State University student, received a shocking, life altering diagnosis just months after expressing concern of blurred vision. A diagnosis that set his mother, Lissa Poincenot, on a path of advocacy to connect patients to thought leaders and supply resources and support.

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Topics: Inherited Eye Disorders, LHON

AAO Recommendations for Genetic Testing of Eye Disorders

Posted by Eleina Cox on May 5, 2016 11:00:00 AM

In 2014, the American Academy of Ophthalmology (AAO) Task Force on Genetic Testing published recommendations for the testing of inherited eye disease. These recommendations are intended for ophthalmologists and other eyecare specialists considering testing patients who meet a specific genetic diagnosis, based on clinical findings. The Task Force addressed key points, such as when to order genetic testing for single-gene and complex eye disease, whether children should be tested, and how the use of genetic technologies may assist in the diagnosis of eye disease.

Continue reading for a summary of The AAO Task Force Recommendations.

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Topics: genetic testing, Inherited Eye Disorders, ocular genetics

 

 

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