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Boston Refsum Center of Excellence

Finding Inspiration in Every Turn

The Boston Refsum Center of Excellence provides care for children, adolescents and adults with Refsum Disease or Refsum-like disorders. They integrate state-of-the-art resources with compassionate, comprehensive care. National experts from Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary work together to provide care for people with Refsum Disease.   Watch the short video below by Dr. Florian Eichler to learn more about this center.

Multi-Disciplinary Approach

The multidisciplinary approach includes care in the areas of neurology, ophthalmology,  neuromuscular, nutrition, otolaryngology (ENT), audiology, metabolism, physiatry and  genetic counseling.  They also work closely with all of the other departments and can make specific referrals, as needed.


For your convenience, a central appointment coordinator is available to schedule your appointments. Please contact Rick Lee at to schedule your appointment today. 

Meet The Team

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Florian Eichler,


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Reza Seyedsadjadi, MD

Neuromuscular Specialist

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Metabolic Specialist, Geneticist


Dunia Abdul-Aziz, MD

Otolaryngologist (ENT)

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Rick Lee

Clinical Research Coordinator

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