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David A. Reichstein, Carlos Bianciotto, Blair Armstrong, Carol Shields, Jerry Shields; Retinal Astrocytic Hamartoma With or Without Underlying Tuberous Sclerosis Complex. Analysis of 126 tumors. Invest. Ophthalmol. Vis. Sci. 2011;52(14):4543.
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© ARVO (1962-2015); The Authors (2016-present)
To compare the clinical features of retinal astrocytic hamartomas (AH) in patients with Tuberous Sclerosis Complex (TSC) versus those without TSC.
Comparative case series utilizing retrospective chart review
56 patients with AH were identified. 22 (39%) had TSC. Patients with TSC presented younger (median 8 vs. 33 years) and were more likely to have a family history of phakomatosis (14% vs. 3%). Patients without TSC were more commonly Caucasian (88% vs. 77%) and were slightly more commonly male (53% vs 50%). Patients identified as having TSC were more likely to have CNS stigmata of TSC (50% vs. 3%) including seizures, CNS astrocytoma, mental retardation, and hemiparesis. They were more likely to have skin stigmata of TSC (80% vs 15%) including ash-leaf sign, shagreen patch, subungual fibroma, cafe au lait spot, and adenoma sebaceum. They were more likely to have giant disc drusen (9% vs. 3%), punched lesions of the RPE (41% vs. 3%), and iris atrophy (5% vs. 0%). Patients with TSC were more likely to have bilateral AH, with more tumors per affected eye (mean 3.2 vs 1.06), and with smaller basal tumor diameter (mean 2.6 mm vs. 3.4 mm) and tumor thickness (mean 1.5 mm vs 2.6 mm). AH in patients with TSC were less commonly in the macula (41% vs 55% without TSC), and more often were found between the macula and the equator (57%). AH was found anterior to the equator in 2% of patients with TSC and 15% of patients without TSC.
Clinical features of AH are somewhat different in patients with TSC compared to those without TSC. Patients with TSC present at a younger age with smaller, multiofocal, bilateral, and more often extramacular AH.
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