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Adult Refsum Disease from Clinical Practice Perspective

Dr. Radha Ramachandran, MD, PhD will review the clinical practice for treating people with Adult Refsum Disease attending the Adult Refsum Disease Clinic at Guys and St Thomas' NHS Hospital Foundation Trust. The monitoring and management strategies used in the clinic are based on decades of combined clinical experience of the team, published studies and case reports. She will also touch on the significant gaps in the current knowledge, and future research needs. Adult Refsum Disease is a genetic disorder impacting the metabolism of phytanic acid. The key symptoms are Retinitis Pigmentosa, loss of smell, hearing loss, numbness, balance issues, itchy skin, shortened fingers and toes. It is one of the few causes of Retinitis Pigmentosa that has a proven dietary therapy to slow vision and hearing loss. Therefore, early diagnosis is critical. Learn more about Adult Refsum Disease at Global DARE Foundation's website: https://www.defeatadultrefsumeverywhe... If you have any questions please contact Global DARE Foundation at info@globaldarefoundation.org