Retrospective consecutive case series.
PARTICIPANTS: No significant difference was found in the prevalence of AH or AP in the CCF-TSCP (36.1%) and
TSC-A (34.1%) groups (P = 0.743). Astrocytic
hamartomas were bilateral in 43.3% and 18.1% (P=0.009) and multiple in 40.0% and 15.3% (P = 0.008) in the CCF-TSCP and
TSC-A groups, respectively. In the CCF-TSCP group, the average number of AH was 4 (range, 2-7). Average
tumor size was 1.0 disc diameter (range, 0.5-2.5 disc diameters). The most common location was along the arcades (41.5%), adjacent to the optic nerve (29.2%), and in the
retinal periphery (27.7%). In the CCF-TSCP group, AP was observed in 12.0% of patients (40.0% bilateral, 50.0% multiple). The presence of
retinal features was associated with giant cell
astrocytoma (37.1% vs. 14.6%; P = 0.018), renal
angiomyolipoma (60.0% vs. 27.1%; P = 0.003),
cognitive impairment (77.1% vs. 43.8%; P = 0.002), and
epilepsy (91.4% vs. 70.8% (P = 0.022) in those with and without
retinal findings, respectively. In patients with
retinal findings in both the CCF-TSCP and
TSC-A groups, mutations in TSC2 were more frequent than in TSC1, 3.3 times and 5.8 times, respectively; in those without
retinal findings, the relative rates were 0.67 times and 2.3 times, respectively.
CONCLUSIONS: