Abstract:

Objective To investigate the ophthalmic features of children with tuberous sclerosis (TSC). Design Retrospective case series. Participants 18 cases of children with TSC. Methods The clinical data of TSC children including fundus photography, infrared fundus photography, coherent optical tomography (OCT) and TSC1/TSC2 gene detection data were retrospectively analyzed. Main Outcome Measures Imaging findings of the external eye, anterior segment and fundus. Results The average age of TSC patients was 7.12±3.33 years. There were 5 cases (27.8%) of eyelid fibroma, 2 cases (11.1%) of eyelid skin depigmentation, 2 cases (11.1%) of white irregular iris nodules and 1 case (5.6%) of white iris deposits. 39, 28, 13 hamartomas were respectively found with OCT, infrared fundus photography and color fundus photography in 11 cases (22 eyes) of TSC. There were 9 TSC2 gene mutations in 11 patients, 2 of which were newly discovered mutations. Conclusion In addition to eyelid and iris involvement, retinal hamartoma is more common in children with TSC. OCT has a higher detection rate of early retinal hamartoma than fundus photography. (Ophthalmol CHN, 2019, 28: 56-60)

Key words: tuberous sclerosis, retinal hamartoma