Role of slit-lamp biomicroscopy in the diagnosis of cystinosis.
The purpose of presenting this case is to emphasize the importance of the slit lamp examination in patients with complex symptoms and signs of growth retardation, organomegaly, and abnormal kidney function tests. As the clinical expression varies greatly from one patient to another and in spite of extensive and expensive work-up, final diagnosis of cystinosis may be established only by careful ophthalmologic examination.
D002675:Child, Preschool; D003554:Cystinosis / Q000175:diagnosis* / Q000503:physiopathology; D005128:Eye Diseases / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D007677:Kidney Function Tests; D008297:Male; D008853:Microscopy; D019721:Ophthalmoscopes