Corneal crystals, myopathy and nephropathy: a new syndrome?
A case with ocular (corneal crystals and retinal pigment epithelial mottling), muscle (oropharyngeal and hand weakness and atrophy), and renal (proteinuria and hypertension) abnormalities is described. We believe that this represents a previously unrecognized syndrome.
D000293:Adolescent; D003316:Corneal Diseases / Q000473:pathology; D003460:Crystallization; D005128:Eye Diseases / Q000473:pathology*; D005260:Female; D006801:Humans; D007674:Kidney Diseases; D009133:Muscular Atrophy; D010857:Pigment Epithelium of Eye / Q000473:pathology; D013577:Syndrome