Learn About Refsum Disease
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7.
The prevalence of Refsum disease is unknown, although the condition is thought to be uncommon.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Refsum Disease. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.
Ronald Wanders practices in Amsterdam, Netherlands. Mr. Wanders is rated as an Elite expert by MediFind in the treatment of Refsum Disease. His top areas of expertise are Zellweger Syndrome, Refsum Disease, Barth Syndrome, and Infantile Refsum Disease.
Proliance Surgeons
Peter F. Maurice, MD, is a highly specialized otolaryngologist, and fellowship-trained in plastic surgery. He is double board-certified by the American Board of Facial Plastic and Reconstructive Surgery and the American Board of Otolaryngology.Dr. Maurice received his medical degree from Georgetown University, in Washington, DC, where he was elected to membership in the Alpha Omega Alpha Honor Medical Society. He completed his residency in otolaryngology–head and neck surgery at Georgetown University Hospital.Dr. Maurice then was selected for a fellowship in facial plastic and reconstructive surgery. This full-year training program gave him a unique opportunity to study with one of the AAFPRS's master surgeons in Albuquerque, New Mexico.At South Seattle Otolaryngology, patients benefit from a team of on-site audiologists and allergy specialists, in addition to a team of otolaryngologists with over 50 years of combined experience. Dr. Maurice is rated as an Experienced provider by MediFind in the treatment of Refsum Disease. His top areas of expertise are Chronic Rhinosinusitis with Nasal Polyps (CRSwNP), Low Nasal Bridge, Nasal Septal Hematoma, and Sinusitis.
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Published Date: November 01, 2016
Published By: National Institutes of Health