title: Visual loss in osteopetrosis.
abstract: We present the clinical and electrophysiological findings in three cases of osteopetrosis with visual loss. In all cases the findings on electroretinography suggested diffuse retinal degeneration, despite normal ophthalmoscopic appearance of the retinas. We suggest that retinal degeneration may be a common finding in osteopetrosis and a major cause of visual loss. Patients with osteopetrosis and poor vision should be examined using electrophysiological techniques to detect unsuspected retinal dysfunction.
mesh_terms: D001766:Blindness / Q000209:etiology; D002675:Child, Preschool; D004596:Electroretinography; D005071:Evoked Potentials; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009896:Optic Atrophy / Q000209:etiology; D010022:Osteopetrosis / Q000150:complications*; D010775:Photic Stimulation; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000209:etiology*