Assessment of visual function in children with methylmalonic aciduria and homocystinuria

Neuropediatrics. 2005 Jun;36(3):181-5. doi: 10.1055/s-2005-865609.


The aim of this study was to assess various aspects of visual function in 6 patients (age range: 9 months to 7 years and 8 months) with methylmalonic aciduria and homocystinuria. All patients had an ophthalmological examination and were tested with a battery of age-appropriate tests assessing various aspects of visual function such as acuity, visual fields and visual attention. None of the patients had significant retinal abnormalities but all 6 had nystagmus which was associated with strabismus in 3 of the 6. They all had some abnormalities on the behavioral tests assessing visual function which appeared to be related to the age of the patients. Visual impairment was more severe in the 3 patients below 3 years of age and milder in the older patients. The presence and the severity of abnormalities, in contrast, did not depend on the age at onset or the age when treatment was started and were only partly related to brain MRI findings. Severe hydrocephalus and basal ganglia involvement were associated with severe visual impairment, but abnormal visual findings were also present in the children with normal MRI and isolated mild periventricular changes. Our results suggest that age, brain lesions and other factors may be responsible for visual abnormalities in methylmalonic aciduria and homocystinuria. Further studies using early and sequential assessment of visual function are needed to establish whether the differences observed between younger and older children may be related to the duration of therapy.

MeSH terms

  • Attention / physiology
  • Child
  • Child Development / physiology
  • Child, Preschool
  • Cognition / physiology
  • Homocystinuria / physiopathology*
  • Homocystinuria / psychology
  • Humans
  • Infant
  • Methylmalonic Acid / urine*
  • Motor Activity / physiology
  • Oculomotor Muscles / physiopathology
  • Oculomotor Nerve / physiopathology
  • Retina / pathology
  • Retina / physiopathology
  • Vision Disparity / physiology
  • Vision, Ocular / physiology*


  • Methylmalonic Acid