Inborn Errors of Metabolism: Refsum Disease

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)


  • Patient with Refsum disease present with nyctalopia, and the fundus shows progressive panretinal degeneration. Vision gradually decreases, with progressive peripheral constriction. The pupil usually does not dilate well.


Inborn errors of metabolism Refsum disease 

Suggested Reading

  1. Pakzad-Vaezi KL, Maberley DA. Infantile Refsum disease in a young adult: case presentation and brief review. Retin Cases Brief Rep. 2014;8:56–9.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

Personalised recommendations