Ophthalmological assessment of children with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder, caused by mutations in the NF1 gene, located on chromosome band 17q11.2. In 1988, the National Institutes of Health created specific criteria for the diagnosis of NF1. Four cardinal criteria are assessed through ophthalmological screening: Lisch nodules, optic pathway glioma, a distinctive osseous lesion (sphenoid dysplasia), and the (orbital) plexiform neurofibroma. NF1 patients are prone to the development of central and peripheral nervous system tumors. Especially young children are at risk for growing optic pathway gliomas that can threaten their sight. From an early age, children with NF1 undergo regular ophthalmological examinations. Little is known about the natural progress of these clinical features and the guidelines for screening and follow-up are controversial. Several questions remain unanswered.

Most of these questions could be solved by better understanding of the natural history of optic pathway gliomas. There is a tendency towards using vision as a primary objective in clinical treatment trials; this way we can evaluate new treatment strategies and focus specifically on visual evolution so we will be able to select even more carefully which patient would benefit treatment. For future clinical trials, a standardized visual acuity assessment protocol is therefore mandatory.