Chorioretinal degeneration in infantile malignant osteopetrosis

Am J Ophthalmol. 1990 Jul 15;110(1):1-5. doi: 10.1016/s0002-9394(14)76929-6.


We studied two patients who had infantile malignant osteopetrosis, severe visual loss, and diminished electroretinogram amplitudes with visible macular chorioretinal degenerative changes. The findings support the hypothesis that a subgroup of patients with infantile malignant osteopetrosis exists in whom the visual loss is caused by a primary retinal degeneration that may be associated with generalized central nervous system neuronal degeneration.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Choroid Diseases / etiology*
  • Choroid Diseases / pathology
  • Electroretinography
  • Eye / diagnostic imaging
  • Female
  • Humans
  • Infant
  • Male
  • Ophthalmoscopy
  • Optic Nerve / pathology
  • Osteopetrosis / complications*
  • Osteopetrosis / physiopathology
  • Retinal Degeneration / etiology*
  • Retinal Degeneration / pathology
  • Tomography, X-Ray Computed