Issue 11/2024
Stoyanova, N.
Department of Ophthalmology, Faculty of Medicine, Medical University – Plovdiv
University Eye Clinic, UMBAL „St. George“
Tuberous sclerosis (Bourneville syndrome) is a rare autosomal dominant inherited disease, characterized by benign tumors or hamartomas of the brain, kidneys, lungs, heart and eyes. There are different clinical variants of this syndrome, which are determined by the genetic defect and the mode of inheritance. This article includes the eye related changes and the most frequent alterations of the other organs and systems due to Bourneville syndrome. Retinal lesions are part of the symptom-complex, also combined with multiorgan changes and family history, requires genetic testing for excluding this syndrome due to its life-threatening complications.
Key words: Bourneville syndrome, ocular hamartomas
Address for correspondence:
Stoyanova, N.
Department of Ophthalmology, Faculty of Medicine,
Medical University – Plovdiv Medical University
of Plovdiv
15A, “Vasil Aprilov”, Blvd.
4002, Plovdiv