Leroy B P, Carton D, De Laey J J
Department of Ophthalmology, University Hospital, Ghent, Belgium.
Bull Soc Belge Ophtalmol. 1996;262:115-21.
A patient with tuberous sclerosis and retinal astrocytic hamartomas is described. The different types of these astrocytomas are illustrated as well as systemic signs of Bourneville disease. Finally the value of the ophthalmological examination in the diagnostic work-up prior to genetic counselling the patient and/or the family members is discussed.
本文描述了一名患有结节性硬化症和视网膜星形细胞错构瘤的患者。文中展示了这些星形细胞瘤的不同类型以及结节性硬化症的全身症状。最后,讨论了眼科检查在对患者和/或其家庭成员进行遗传咨询之前的诊断性检查中的价值。