Ciliary body cysts in neurofibromatosis: a new coexistence?

ABSTRACT

PURPOSE: 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). MATERIALS & METHODS: 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. RESULTS: 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. CONCLUSION: The coexistence of ciliary body cysts and NF1, and the effect of these cysts in the eye should be enlightened with further studies.