Costeff optic atrophy syndrome; 3-methylglutaconic aciduria type 3; optic atrophy plus syndrome

Introduction

neuroophthalmologic syndrome

Clinical manifestations

• early-onset bilateral optic atrophy
• later-onset spasticity
• extrapyramidal dysfunction,
• cognitive deficit

Laboratory

• increased urinary excretion of
  • 3-methylglutaconic acid
  • 3-methglutaric acid
• OPA3 gene mutation

More general terms

• methylglutaconicaciduria
• optic atrophy plus syndrome