[Tuberous sclerosis with megalocornea and coloboma of the iris (author's transl)].
A mentally and physically retarded 4 1/2 year-old boy with epileptic seizures showed a megalocornea on both sides, a coloboma of the iris in the right eye and a white area at the temporal side of the disc in the left eye. At first a coloboma of the disc was suspected. By further controls at the age of 8 years a typical two diopters elevated nodular opaque white mass was seen in place of the white area in the left eye, in addition two flat tumours were also seen. In the right eye with coloboma of the iris there was also a flat area. Radiographically the right kidney showed two ureters with flat calyces. At the age of 8 years symmetrical face naevi occurred only under atropine medication, and showed at the age of 10 years the typical picture of Pringle's tumours.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications*; D003316:Corneal Diseases / Q000150:complications*; D006801:Humans; D007498:Iris / Q000002:abnormalities; D009887:Ophthalmoscopy; D012590:Sclera / Q000473:pathology; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D014603:Uveal Diseases / Q000150:complications
Tuberöse Sklerose mit Megalokornea und Iriskolobom