Inborn Errors of Metabolism: Bietti Crystalline Dystrophy

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


Bietti crystalline dystrophy (BCD) has been estimated to occur in 1 in 67,000 people; it is more common in people of East Asian descent.


Inborn errors of metabolism Bietti crystalline dystrophy BCD 



On August 29, 2018, the US Food and Drug Administration (FDA) granted Orphan Drug Designation to AAV-based gene therapy product (AAV.CYP4V2) for treating BCD.

Suggested Reading

  1. Fong AM, Koh A, Lee K, Ang CL. Biettis crystalline dystrophy in Asians: clinical, angiographic and electrophysiological characteristics. Int Ophthalmol. 2009;29:459–70.CrossRefGoogle Scholar
  2. Ng DS, Lai TY, Ng TK, Pang CP. Genetics of Bietti crystalline dystrophy. Asia Pac J Ophthalmol (Phila). 2016;5:245–52.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

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