Chorioretinal degeneration in infantile malignant osteopetrosis.
case_report · Level V
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- Record sourced from PubMed, PMID 2368817.
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Abstract
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.
Medical subject headings
- Choroid Diseases
- Osteopetrosis
- Retinal Degeneration