Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency

Neuropediatrics. 2016 Aug;47(4):263-7. doi: 10.1055/s-0036-1583183. Epub 2016 Apr 22.

Abstract

We describe for the first time two patients with succinic semialdehyde dehydrogenase (SSADH) deficiency, who were found to have abnormal electroretinogram (ERG) examinations at baseline, or 6 months after vigabatrin treatment was started. This was somewhat reversible with L-taurine treatment, or minimally progressive. The mechanism of injury to the retina may be induced by elevations of γ-aminobutyric acid causing peripheral photoreceptor and ganglion cell damage, and this can be exacerbated by the use of vigabatrin. The use of taurine supplementation in tandem with vigabatrin may allow reversal of retinopathy and mitigate or slow down further deterioration. Further prospective clinical trials are required to evaluate this further. We recommend starting L-taurine therapy together with vigabatrin if a trial of vigabatrin is commenced in a patient with SSADH deficiency. Close monitoring of visual fields or ERG is also recommended at baseline and during vigabatrin therapy.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Anticonvulsants / adverse effects*
  • Child
  • Developmental Disabilities / drug therapy*
  • Electroretinography
  • Female
  • Humans
  • Male
  • Retinal Dystrophies / chemically induced*
  • Retinal Dystrophies / drug therapy
  • Retinal Dystrophies / physiopathology
  • Succinate-Semialdehyde Dehydrogenase / deficiency*
  • Taurine / therapeutic use
  • Vigabatrin / adverse effects*

Substances

  • Anticonvulsants
  • Taurine
  • Succinate-Semialdehyde Dehydrogenase
  • Vigabatrin

Supplementary concepts

  • succinic semialdehyde dehydrogenase deficiency