The role of visual electrodiagnostics in management of children with neurofibromatosis type 1.

PURPOSE: To evaluate the role of visual electrodiagnostic testing in children with neurofibromatosis type 1 (NF1) despite improved accessibility to magnetic resonance imaging (MRI). METHODS: The records from 39 children (78 eyes, 15 boys, 24 girls, average age at last visit of 11.5 ± 4.3 years, average follow-up time of 7.8 ± 3.9 years) with genetically confirmed NF1 were retrospectively analysed. They all underwent a thorough ophthalmological investigation, including age-appropriate visual acuity testing, anterior segment evaluation for Lisch nodules and a dilated fundus examination. If children were cooperative enough, colour vision was tested using the Hardy-Rand-Rittler test, visual fields were evaluated with Goldmann perimetry. All performed MRI of the brain and orbits as part of the standard of care protocol. Visual electrodiagnostics included electroretinography (ERG) and visual evoked potentials (VEP) using a standard protocol in older children, whereas with less cooperative children a modified protocol according to the Great Ormond Street Hospital (GOSH protocol) was used. RESULTS: The average visual acuity was 0.8 ± 0.3, colour vision was abnormal in 6%, perimetry in 8%, Lisch nodules were present in 62%, and the optic disc was pale in 66% of all eyes. Plexiform neurofibroma of the eyelid/orbit was present in 4%. Optic pathway glioma (OPG) was detected with MRI in 22 (57%) and in 6/22 treatment was indicated. Other intracranial NF1-related lesions were documented in 70% of children. VEP were abnormal in 16/39 of all children with NF1 (41%) comprising 14/22 (65%) of children with confirmed OPG and 2/17 (12%) of children without OPG. All full-field and pattern ERG responses were within normal limits. All individual VEP results are described and three cases from this cohort of children are presented in detail to illustrate the importance of VEP testing. In Case 1, VEP abnormality suggested subsequent MRI of the brain under general anaesthesia, which was otherwise contraindicated according to normal clinical findings and his young age. In Cases 2 and 3, VEP provided more precise functional information during the follow-up of OPG, while other psychophysical tests remained unchanged. CONCLUSIONS: Electrodiagnostics has multifactorial role and importance in children with NF1, either when visual pathway function is impaired in young children, even before MRI under general anaesthesia and other psychophysical tests can be performed, as well as for a more precise monitoring of the visual pathway function before potential treatment of OPG, or after it, to evaluate its success.

Perinatal risk factors associated with central retinal changes in former preterm children on optical coherence tomography angiography.

PURPOSE: To assess the association between perinatal risk factors for retinopathy of prematurity (ROP) and central retinal structures of former preterm children seen on optical coherence tomography angiography (OCTA). METHODS: This prospective cohort study included 40 children with a history of preterm birth and 33 healthy full-term children. We documented their birth weight, gestational age, other significant risk factors for ROP development and presence of ROP. Imaging was performed using swept-source OCTA, and quantitative evaluation was performed. Analytic parameters included the area of foveal avascular zone (FAZ), foveal depth (FD), central subfoveal retinal thickness (CSFT) and capillary density index (CDI) of the deep and superficial capillary plexus. RESULTS: Preterm children had significantly smaller FAZ, lower FD and higher CSFT compared to controls (all p < 0.001). Both groups exhibited no differences in total CDI at the superficial (p = 0.969) and deep capillary plexus (p = 0.370). The duration of mechanical ventilation correlated negatively with FAZ and FD but positively with CSFT. The duration of supplemental oxygen treatment correlated negatively with FD. The presence of intraventricular haemorrhage correlated negatively with FAZ and FD but positively with CSFT. Regression analysis found that the duration of mechanical ventilation and the presence of bronchopulmonary dysplasia were associated with lower FD (p = 0.002 and 0.01, respectively) and higher CSFT (p = 0.002 and 0.028, respectively). CONCLUSION: Central retinal anomalies were identified in former preterm children using OCTA. Macular changes were associated with several risk factors for ROP development.