Uveal and retinal abnormalities in an Asian neurofibromatosis type 1 cohort: a cross-sectional study with
Shipeng Guo1, Xuan Yu2,3, Haonan Ma1
1Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, No.1665, Kongjiang Road, Shanghai, 200092, China.
Background:
Although ocular manifestations of neurofibromatosis type 1 (NF1) have been described extensively in Western cohorts, systematic data in Asian populations remain limited, and age-related phenotypic variations have not been comprehensively characterized. This study investigated the prevalence and multidimensional characteristics of NF1-related ocular manifestations in Asian populations, using age-stratified analysis of uveal and retinal abnormalities.
Methods:
In this cross-sectional study, 228 Chinese patients with NF1 underwent comprehensive ophthalmic evaluations. Examinations included slit-lamp biomicroscopy, ultra-widefield (UWF) fundus photography, near-infrared reflectance (NIR) imaging, and optical coherence tomography (OCT) to assess retinal and uveal abnormalities.
Results:
A total of 228 patients with NF1 (46.1% male; median age 14 years) were enrolled. Lisch nodules were detected in 82.82% of patients, with highest prevalence during puberty and greater counts in older individuals (P < 0.001). Lisch nodules showed a tendency for inferior distribution and likely progressive darkening with age. Choroidal abnormalities were identified in 89.94% of patients, exceeding the prevalence of Lisch nodules (P < 0.001). Both the number and area of choroidal abnormalities correlated positively with age (P < 0.001), with predominant distribution at the posterior pole. Retinal vascular abnormalities (RVAs), retinal astrocytic hamartomas (RAHs), and iris mammillations were observed in 9.47%, 1.83%, and 8.37% of patients, respectively.
Conclusions:
In Asian patients with NF1, older individuals exhibited a greater burden of uveal abnormalities. Lisch nodules demonstrated preliminary evidence of an age-dependent darkening phenotype. Choroidal abnormalities were more prevalent than Lisch nodules and consistently present across age groups, making them valuable diagnostic markers in paediatric patients. Compared with Western cohorts, Chinese paediatric patients with NF1 exhibited earlier onset of both Lisch nodules and choroidal abnormalities. These findings refine ethnicity-specific ocular profiles of NF1 and underscore the importance of timely ophthalmic surveillance, particularly in children.
