We would like to clarify some important issues raised in the debate about screening children with NF1-associated optic pathway glioma (OPG).1, 2 The principles of population mass screening are not applicable to the detection of OPG in young children with NF1—a significant complication in a high-risk group of patients. Ophthalmological assessments aim to detect visual impairments resulting from a symptomatic OPG rather than to identify all NF1-associated OPG, at least half of which will never cause signs or symptoms.3 Age-appropriate visual testing is recommended throughout the first decade of life to identify children requiring increased surveillance.3

MRI does not predict clinical behaviour or preclude the later development of an OPG; moreover, incidentally identified NF1-associated OPGs rarely progress or require treatment.4 In the absence of refractive error, reduced visual acuity or proptosis in a child with NF1 is highly predictive of an OPG, while cataracts and retinal disease are rarely detected in this population. The significant causes of non-correctible visual loss in NF1 children are OPG, glaucoma secondary to a plexiform neurofibroma involving the eyelid, or proptosis and optic nerve damage due to a retro-orbital plexiform neurofibroma. While the latter two may be visible, detailed ophthalmological examination including fundoscopy is necessary to detect a symptomatic OPG.

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