Optical coherence tomography of the macular ganglion cell layer in children with neurofibromatosis type 1 is a useful tool in the assessment for optic pathway gliomas

• Published in: PloS one 2024-07, Vol.19 (7), p.e0305548
• Main Authors: Arnljots, Urszula, Nilsson, Maria, Bolzani, Roberto, Benassi, Mariagrazia, Sandvik, Ulrika, Munoz, Daniel Martin, Blomgren, Klas, Hellgren, Kerstin
• Format: Article
• Language: English
• Subjects: Age; Attention deficit hyperactivity disorder; Autism; Automation; Biology and Life Sciences; Child; Child, Preschool; Children; Correlation coefficient; Correlation coefficients; Damage assessment; Damage detection; Development and progression; Eye; Female; Ganglion; Genetic disorders; Glioma; Glioma cells; Gliomas; Humans; Lindgren, Astrid (1907-2002); Magnetic resonance; Magnetic resonance imaging; Magnetic Resonance Imaging - methods; Male; Medicin och hälsovetenskap; Medicine and Health Sciences; Neurofibromatosis; Neurofibromatosis 1 - diagnostic imaging; Optic nerve; Optic Nerve Glioma - diagnostic imaging; Optical Coherence Tomography; Optics; Patients; Pediatrics; Prospective Studies; Recklinghausen's disease; Research and Analysis Methods; Retina; Retinal Ganglion Cells - pathology; Social Sciences; Thickness; Tomography; Tomography, Optical Coherence - methods; Tumors; Visual Acuity; Visual field; Visual fields
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0305548

Optic pathway glioma (OPG) is a feared complication to neurofibromatosis type 1 (NF1) since it can cause visual impairment in young children. The main goal of screening is to detect symptomatic OPGs that require treatment. Optical coherence tomography (OCT) has been suggested as a tool for detection of neuro-retinal damage. To investigate whether the ganglion cell layer assessed by OCT is a reliable measure to identify and detect relapses of symptomatic OPGs in children with NF1. Children (3-6 years) with NF1, with and without known OPG and children with sporadic OPG (S-OPG) resident in the Stockholm area, were invited and followed in a prospective study during a three-year period. Brain magnetic resonance tomography (MRI) had been performed in children with symptoms of OPG. Outcome measures were VA in logMAR, visual field index (VFI), average thicknesses of the ganglion cell-inner plexiform layer (GC-IPL), and peripapillary retinal nerve fiber layer (pRNFL). There were 25 children with MRI-verified OPG and 52 with NF1 without symptomatic OPG. Eyes from NF1 patients without symptoms of OPG showed significantly better results in all four analyzed parameters compared to eyes with NF1-associated OPG. Mean GC-IPL measurements seemed stable and reliable, significantly correlated to pRNFL (correlation coefficient (r) = 0.662, confidence interval (CI) = .507 to .773 p