Ciliary body cysts in neurofibromatosis: A new coexistence?

Abstract

Neurofibromatosis 1 (NF1) is an autosomal dominant, multisystem disorder that also effects the eye. Herein, we aimed to investigate the posterior iris surface and ciliary body morphology of NF1 patients by ultrasonic biomicroscopy (UB). Nine consecutive unrelated subjects with NF1, and as a control group 25 healthy subjects, were included in the study. All patients underwent ophthalmic examination including visual acuity testing, slit-lamp biomicroscopy, tonometry, gonioscopy (Schaffer classification), and dilated ophthalmoscopy, UB. Mean age was 35.1 ± 16.2 (range, 11-57) and 34.5 ± 15.6 (range, 9-60) for NF1 and control groups respectively (p>0.05). Lisch nodules were present in 16 of 18 eyes (88.8%) in NF1 group. Fundoscopic examination of the control group and 15 eyes of NF1 (83.3%) patients was normal, whereas hypoplastic and tilted optic nerve were present in three eyes, and temporally-located bone-spicule-like lesions was present in one eye of the NF1 group. UB revealed ciliary body cyst in 77.7% (14/18) of the eyes among NF1 group, and 8% (4/50) among control group (p<0.05). The mean size of the cysts were 520 ± 191 μ (range, 220-860 μ) and 495 ± 231 μ (range, 300-830 μ) at NF1 and control groups, respectively. Gonioscopic evaluation revealed that 55% of the NF1 patients have an unoccludable anterior chamber angle (Grade 3 or 4), 45% occludable angle (Grade 1 or 2), and 78% irregular pigment patches. However, occludable angle rate was just 4% in the control group, and none of the patients had irregular pigment patches. The coexistence of ciliary body cysts and NF1, and the effect of these cysts in the eye should be enlightened with further studies.