BLINDNESS DUE TO NONKETOTIC HYPERGLYCINEMIA - REPORT OF A 38-YEAR-OLD, THE OLDEST CASE TO DATE

We report a 38-year-old woman with a mild form of hyperglycinemia comp licated with optic nerve atrophy and convulsion. She was normal at bir th and showed normal mental and physical development. After the age of 13, her visual acuity rapidly decreased. At the age of 33, she had nu merous episodes of tonic seizures lasting for 1-2 minutes. She had opt ic atrophy, but no intellectual impairment. Glycine levels of the plas ma, urine and cerebrospinal fluid were markedly increased, but the CSF /serum glycine ratio was slightly higher than the normal range. Althou gh there is one case of retinal impairment of hyperglycinemia in the l iterature, this is the first report of blindness with hyperglycinemia in a 38-year-old woman.