Optic Nerve Glioma, Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1 Variant (p.Gln83Ter): A Case Report.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with highly variable expression, ranging from cutaneous findings, such as café-au-lait macules, to severe ophthalmic and neurological complications. Among its ocular manifestations, optic pathway gliomas and plexiform neurofibromas are well recognized, while secondary glaucoma, though less frequent, can significantly impair vision and quality of life. We present the case of a four-year-old girl with NF1 who developed a unique clustering of optic nerve glioma, plexiform neurofibroma, and secondary glaucoma, underscoring the spectrum and severity of ocular involvement in this condition. Genetic analysis identified a rare nonsense NF1 variant (p.Gln83Ter), also found in other affected family members, providing valuable insight into genotype-phenotype correlation. This case highlights several important points such as the need for a high index of suspicion in young children presenting with unusual or coexisting ocular manifestations, the utility of early genetic confirmation for diagnosis and family counseling, and the importance of coordinated, multidisciplinary care to address the diverse and progressive complications of NF1.