title: Ocular findings in Kenny's syndrome.
abstract: In 1966, Kenny described two patients with an unusual congenital syndrome including dwarfism, thickened long bone cortex, transient hypocalcemia, and normal intelligence. These and other patients previously were incorrectly described as "myopic". Ocular findings in four subjects ranged from uncomplicated nanophthalmos with hyperopia to extreme pseudopapilledema, vascular tortuosity, and mucular crowding. Postmortem findings from one patient showed calcium deposits demonstrable only by special histochemical stains that were distributed uniquely in the cornea. This distribution differed greatly from the pattern seen in band keratopathy. Retinal calcification was also an unusual feature. Because one patient exhibited a pseudodoubling of the optic papilla, the literature was reviewed. We conclude that no convincing case of true doubling of the optic nerve has been described. Ophthalmologists should be alert for undiagnosed electrolyte abnormalities, especially hypocalcemia, in patients with Kenney's syndrome.
mesh_terms: D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000473:pathology*; D002114:Calcinosis / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications*; D005128:Eye Diseases / Q000150:complications* / Q000473:pathology; D005145:Face; D005260:Female; D006323:Heart Arrest / Q000150:complications; D006801:Humans; D006956:Hyperopia / Q000150:complications; D006996:Hypocalcemia / Q000150:complications*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000150:complications; D008875:Middle Aged; D009900:Optic Nerve / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology; D013577:Syndrome