Challenges

Experts share their insights in diagnosing and managing rare conditions
CRB1 Retinal Disease and Quality of Life

CRB1 Retinal Disease and Quality of Life

Kristin Smedley, president of Curing Retinal Blindness Foundation, talks about what doctors need to know about conditions such as retinitis pigmentosa and Leber congenital amaurosis.

Lipodystrophy is Often Misdiagnosed

Lipodystrophy is Often Misdiagnosed

  Andra Stratton, president of Lipodystrophy United explains how lipodystrophy is often misdiagnosed or under-diagnosed. Lipodystrophy is a rare medical condition in which persons have an abnormal distribution of fat in the body. There are numerous types of...

Surgery for Thyroid Eye Disease

Surgery for Thyroid Eye Disease

Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine discusses surgical options currently available to treat thyroid eye disease due to Graves’ disease.

Hemorrhagic Stroke

Hemorrhagic Stroke

Rajiv Ratan, MD, PhD, of the Burke Neurological Institute, explains hemorrhagic stroke.

Friedreich’s Ataxia

Friedreich’s Ataxia

Brigid Brennan of the Friedreich’s Ataxia Research Alliance (FARA) discusses Friedreich’s ataxia (FA), a degenerative neuro-muscular disorder due to mutations in the FXN gene that reduces the production of frataxin, a protein important for proper mitochondrial functions.

Thyroid Eye Disease: Incidence and Treatment

Thyroid Eye Disease: Incidence and Treatment

Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine talks about the incidence and treatment options for thyroid eye disease due to Graves’ disease.

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