Chorioretinal degeneration in infantile malignant osteopetrosis.
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.
Ruben
J B
JB
Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242.
Morris
R J
RJ
Judisch
G F
GF
D015862:Choroid Diseases / Q000209:etiology* / Q000473:pathology; D004596:Electroretinography; D005123:Eye / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009887:Ophthalmoscopy; D009900:Optic Nerve / Q000473:pathology; D010022:Osteopetrosis / Q000150:complications* / Q000503:physiopathology; D012162:Retinal Degeneration / Q000209:etiology* / Q000473:pathology; D014057:Tomography, X-Ray Computed