Refsum DiseaseSymptoms, Doctors, Treatments, Advances & More
Refsum Disease Overview
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 practicing medicine in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Refsum Disease. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Acromesomelic Dysplasia, Achondrogenesis, and Acromesomelic Dysplasia Campailla Martinelli Type.
Ronald Wanders practices practicing medicine in Amsterdam, Netherlands. Mr. Wanders is rated as an Elite expert by MediFind in the treatment of Refsum Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Zellweger Syndrome, Refsum Disease, Barth Syndrome, and Protein Deficiency.
CUIMC/Edward S. Harkness Eye Institute
Tarun Sharma is an Ophthalmologist practicing medicine in New York, New York. He has been practicing medicine for over 44 years. Dr. Sharma is rated as a Distinguished provider by MediFind in the treatment of Refsum Disease. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Diabetic Retinopathy, X-Linked Juvenile Retinoschisis, Late-Onset Retinal Degeneration, Vitrectomy, and Trabeculectomy. Dr. Sharma is currently accepting new patients.
Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...
Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...
Published Date: November 01, 2016
Published By: National Institutes of Health