[Bourneville's tuberous sclerosis. A case report].

INTRODUCTION

Bourneville's tuberous sclerosis (BTS) is an autosomal dominant phakomatosis characterized by the development of a benign hamartoma-like tumor, which is usually located in the skin, kidney, heart, brain, and eyes. We present here a case of a retinal BTS of late diagnosis. We also discuss the clinical course and progress of this condition.

OBSERVATION: A 28-year-old man was a known BTS patient followed in the dermatology clinic. The ophthalmologic exam and the angiography with fluorescein revealed retinal astrocytic hamartomas bilaterally. Dermatologic examination also showed facial angiofibromas. The remainder of the physical examination was unremarkable. The chest X-ray, renal scan, heart scan and a CT scan of the brain failed to show any other localizations of the disease. The lesions described had remained unchanged over a period of 6 years.

CONCLUSION

Retinal lesions during BTS are dominated by the presence of astrocytic hamartomas essentially around the papillae. They are often an incidental diagnosis and evolve slowly. Except in complicated cases, their prognosis is usually satisfactory.