Abstract

P 070

Ocular involvement in tuberous sclerosis – case report

Cojocaru V. M., Grecu P., Ciurtin C.
Clinical Eye Emergency Hospital I, Cantacuzino Clinical Hospital, Bucharest, Romania

Objective: Tuberous sclerosis complex is a genetic, autosomal dominant disorder characterized by the development of hamartomas in multiple organs including the brain, skin, eye, kidney and heart.
Methods: We report a case of a 11-months-old girl accepted in a department of neurology for infantile spasms.
Results: The examination of the patient showed: hypopigmented cutaneous macules and mental retardation. The ophthalmoscopy indicated the presence of a tumoral lesion in RE. Ocular ultrasonography confirmed the retinal lesion in RE and identified other retinal lesions of LE with peripapillary distribution. Computed tomographic scanning of the brain showed multiple lesions in the lateral ventricles.
Conclusions: The diagnosis was: Tuberous sclerosis, West syndrome. Retinal astrocytic lesions of tuberous sclerosis generally are stationary but they can sometimes grow and cause severe ocular complications. Patients with retinal astrocytic hamartomas should have serial ophthalmic evaluations because of this possibility.

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