Abstract:  Objective To investigate the ocular clinical manifestations of patients with neurofibromatosis type 1 (NF1). Design Retrospective case series. Participants 17 cases (34 eyes) of NF1 in Beijing Tiantan Hospital from October 2021 to February 2022. Methods Clinical data of 17 patients diagnosed with NF1 were retrospectively analyzed. All patients underwent detailed ophthalmic examination and related general check-up. Main outcome measures The incidence of iris hamartoma and ocular and systemic related clinical manifestations. Results 17 patients ranged in age from 10 to 52 years were enrolled in this study, including 9 males (18 eyes) and 8 females (16 eyes). The best corrected vision acuities were from no light perception to 1.2. The intraocular pressures of all patients were normal. 11 patients (64.7%) suffered iris hamartomatain of both eyes, presenting as light brown to dark brown slightly raised nodules with clear boundaries, and ranged in number from 3 to 25, with diameters ranging from 0.5 mm to 1.5 mm. Their positions ranged from close to the pupil margin to any part of the iris, 73.3% distributed on inferior part of the iris. One patient suffered eyelid and orbital plexiform neurofibroma and one patient suffered choroidal abnormalities. The systemic manifestations also included milk coffee spots and neurofibroma of multiple types, and 12 cases combined with axillary groin freckles. Conclusion We found that 65% of patients presented with iris hamartoma of both eyes, which was manifested as brown micro-raised nodules of varying size and number. Iris hamartoma is one of the most important clinical manifestations of NF1, and this study provides a reference for clinicians to fully understand NF1 and determine the disease condition and classification. (Ophthalmol CHN, 2023, 32: 421-424)

Key words:  neurofibromatosis type 1, iris hamartomata