[Tuberous sclerosis of Bourneville: contribution of the ophthalmologist in 2 cases].
Bourneville's tuberous sclerosis. Report on two cases. The tuberous sclerosis is a most rare congenital disease belonging to the phacomatoses with a non-predominant neural crest participation. The ophthalmologist's diagnostic does have a real importance because the fundus can show phacomas which are one of the most specific indications of this affection, and therefore it does help for the genetic advice. After the report of two tuberous sclerosis cases showing phacomas, we insist on the ophthalmologic signs and on the principal manifestations of this disease. The main problem to solve will be how to set up the differential diagnostic with a first appearance of a retinoblastoma. Most of the time, the evolution will be a slow increase of the phacomas' number and of their size as well. Sometimes it might be complicated by vitreous hemorrhages which may lead to a vitrectomy. The vital prognostic will be make out according to the general damages.
Caujolle
J P
JP
Grandon
M
M
Gramet
C
C
Guez
J E
JE
Lods
F
F
D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006222:Hamartoma / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary; D009456:Neurofibromatosis 1 / Q000175:diagnosis; D012175:Retinoblastoma / Q000175:diagnosis; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis
Sclérose tubereuse de Bourneville: apport de l'ophtalmologiste au travers de deux cas.