Ocular involvement in tuberous sclerosis
Background: Besides the classical triad of mental retardation, epilepsy and adenoma sebaceum multiple ocular manifestations occur in patients with tuberous sclerosis (TSC). Iris- and retinal depigmentation, atypical colobomas, swelling and atrophy of the optic nerve as a sign for an obstructive hydrocephalus as well as typical retinal hamartomas are described.
Patients and methods: Retrospectively the ophthalmic findings of 20 patients (13 women, 7 men) with TSC aged between 1 and 43 years (median 9 years) were analysed.
Results: In 9 patients no ophthalmic manifestations were present. 4 patients had a swelling of the optic disc, 3 strabism and 1 unilateral iris coloboma. 7 patients (11 eyes) had retinal depigmentation, 4 (7 eyes) retinal astrocytoma. The retinal hamartomas occured in three morphologic different types. Besides flat, translucent intraretinal lesions (4 eyes), nodular, opaque, white (1 eye) and granular, elivated, partial calcified tumors described as resembling a mulberry (2 eyes) were found. The morphology of the lesions changed over the years.
Conclusions: Ocular involvement was found in many cases of TSC. The ophthalmologist is important in diagnosis and management. The diagnosis of ophthalmic manifestions of TSC can lead to the correct diagnosis and therapy of systemic complications of the disease. Retinal hamartomas appear variable and can change their morphology. Sometimes the benign tumors are not recognized or misdiagnosed as "drusen". Retinoblastoma of the optic nerve and retina is the most important tumor that must be differentiated from the hamartomas.
Department of Ophthalmology, Julius Maximilians University, Josef-Schneider-Str. 11, D-97080 Würzburg