Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria

Arch Ophthalmol. 2005 Aug;123(8):1143-6. doi: 10.1001/archopht.123.8.1143.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors
  • Betaine / therapeutic use
  • Cobamides / deficiency
  • Female
  • Homocysteine / blood
  • Homocystinuria / complications*
  • Humans
  • Hydroxocobalamin / therapeutic use
  • Infant
  • Macula Lutea / pathology*
  • Methionine / therapeutic use
  • Methylmalonic Acid / urine*
  • Retina / physiopathology
  • Retinal Degeneration / etiology*
  • Retinal Degeneration / physiopathology
  • Vision, Ocular
  • Visual Acuity
  • Vitamin B 12 Deficiency / complications*

Substances

  • Cobamides
  • Homocysteine
  • Betaine
  • Methylmalonic Acid
  • Methionine
  • Hydroxocobalamin