Chorioretinal degeneration in infantile malignant osteopetrosis.

Ruben, J B; Morris, R J; Judisch, G F · Am J Ophthalmol · 1990

case_report · Level V

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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.

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