Understanding Genetic Optic Neuropathies and Evaluation Methods

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes you might even hear Kira join as a guest host especially when there will be genetic topics. 

It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles. 

In this episode, we were honored to have Dr. Andrew Carey as a guest. As a disclosure, Dr. Carey is the co-host Cathy Gildenhorn’s doctor who diagnosed her rare disease, Wolfram Syndrome. Andrew R. Carey, MD (he/him) is an Assistant Professor of Ophthalmology in the division of Neuro-Ophthalmology at the Wilmer Eye Institute. He specializes in neuro-ophthalmic disorders such as optic neuritis, uveitis related papillitis, ischemic & hereditary optic neuropathies as well as diseases of the retina, including age-related macular degeneration, diabetic retinopathy, toxic retinopathies and inherited disorders of the retina such as retinitis pigmentosa.

As we unravel the complexities of neuro-ophthalmic disorders and rare diseases, Dr. Andrew Carey provides a wealth of knowledge and guidance. Join us in this enlightening conversation, gaining insights into the diagnostic journey, the detective work of a neuro-ophthalmologist, and the promising future of research in this field.

Defining Neuro-Ophthalmology:

- An exploration of what neuro-ophthalmology entails and indications of when individuals should seek the expertise of a neuro-ophthalmologist.

Eyes as Windows to Rare Diseases:

- Discussion on the potential for diagnosing rare diseases through eye examinations.

- Identifying the type of eye doctor suitable for evaluating and diagnosing rare diseases.

Diagnostic Journey and Recognizing Symptoms:

- Dr. Carey shares insights into a typical diagnostic journey, illustrated by Cathy's experience with Wolfram syndrome.

- The significance of recognizing atypical symptoms and the role it played in Cathy's diagnosis.

Referral Process and Timely Treatment:

- Understanding the referral process to a neuro-ophthalmologist.

- Strategies to help patients find treatment in a timely manner.

Dr. Carey as a Medical Detective:

- Dr. Carey's role as a detective in diagnosing various health conditions through eye examinations.

- An exploration of different types of optic neuropathies and their distinctions.

Communication with Eye Doctors:

- Emphasizing the importance of open, detailed, and comprehensive communication about symptoms with eye doctors.

Wolfram Syndrome and Rare Diseases:

- Dr. Carey's journey of learning about Wolfram syndrome, whether in school or through practical experience.

- Insights into diagnosing rare diseases and their genetic components.

Demographics of Rare Disease Patients:

- Understanding the age demographics of patients with rare diseases – pediatric, adult, or both.

Wolfram Research and Future Outlook:

- Dr. Carey shares details about his research on Wolfram syndrome and its goals.

- How listeners can get involved, learn more, or contribute to support research efforts.

The Future of Rare Diseases and Genetic Optic Neuropathies:

- Dr. Carey provides a glimpse into the future of rare diseases and genetic optic neuropathies.

Closing Advice:

- Dr. Carey shares valuable advice for listeners as they navigate potential neuro-ophthalmic concerns or rare diseases.

Please be sure to check out more episodes of It Happened To Me, just search the title in whatever podcast player you use to listen to DNA Today!

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

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