Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency.
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.
Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada.
Gabriella-Ana
GA
Horvath
Division of Pediatric Neurology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada.
Juliette
J
Hukin
Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada.
Sylvia G
SG
Stockler-Ipsiroglu
Division of Pediatric Ophthalmology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada.
Maryam
M
Aroichane
D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy*; D000927:Anticonvulsants / Q000009:adverse effects*; D002648:Child; D002658:Developmental Disabilities / Q000188:drug therapy*; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D058499:Retinal Dystrophies / Q000139:chemically induced* / Q000188:drug therapy / Q000503:physiopathology; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency*; D013654:Taurine / Q000627:therapeutic use; D020888:Vigabatrin / Q000009:adverse effects*
D000927:Anticonvulsants; D013654:Taurine; D050644:Succinate-Semialdehyde Dehydrogenase; D020888:Vigabatrin