title: Chorioretinal degeneration in infantile malignant osteopetrosis.
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.
authors.affiliation: Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242.
authors.forename: J B
authors.initials: JB
authors.lastname: Ruben
authors.forename: R J
authors.initials: RJ
authors.lastname: Morris
authors.forename: G F
authors.initials: GF
authors.lastname: Judisch
mesh_terms: 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