Role of visual evoked potentials and optical coherence tomography in the screening for optic pathway gliomas in patients with neurofibromatosis type I.

PURPOSE: The purpose of the present study was to compare visual function assessment, visual evoked potential, and optical coherence tomography with measurement of retinal nerve fiber layer thickness for the diagnosis of optic pathway glioma in children with neurofibromatosis type 1. METHODS: This retrospective observational study included patients with neurofibromatosis type 1 who underwent brain magnetic resonance imaging scan, visual evoked potential study, and peripapillary retinal nerve fiber layer evaluation by optical coherence tomography. Patients were tested with pattern-reversal visual evoked potential and with flash visual evoked potential in case of poor cooperation. Optical coherence tomography was performed with HRA Spectralis (Heidelberg Engineering, Heidelberg, Germany). The area under the curve of receiver operating characteristic curves was used to evaluate the accuracy of each parameter for diagnosing optic pathway glioma. RESULTS: In all, 110 patients with neurofibromatosis type 1 were included in the study. Fifty of them had an optic pathway glioma diagnosed with magnetic resonance imaging, while 60 did not. Global retinal nerve fiber layer thickness demonstrated the highest diagnostic power for discriminating patients with and without optic pathway glioma (area under the curve = 0.758, sensitivity = 65.3%, specificity = 83.3%), followed visual acuity (area under the curve = 0.723, sensitivity = 51.1%, specificity = 91.7%) and P100 of visual evoked potential (area under the curve = 0.712, sensitivity = 69.6%, specificity = 63.8%). CONCLUSION: The results of the present study showed that the measurement of retinal nerve fiber layer thickness was the most efficient test for discriminating patients with and without optic pathway glioma. Brain magnetic resonance imaging remains the gold standard to confirm the diagnosis of optic pathway glioma. Longitudinal studies are required to define if the early detection of tumors with optical coherence tomography could prevent vision loss and morbidity.

Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients.

BACKGROUND: recent studies reported that anti myelin oligodendrocyte glycoprotein (MOG) antibody (ab) related optic neuritis (ON) tend to have characteristics that differ from seronegative ones. The aim of our study was to investigate the clinical characteristics of pediatric anti-MOG ON by comparing anti MOG-ab-seropositive and seronegative patients with ON. METHODS: in this retrospective Italian multicentre study, participants were identified by chart review of patients evaluated for acquired demyelinating syndromes of the central nervous system (over the period 2009-2019). We selected patients presenting with ON as their first demyelinating event. Inclusion criteria were age < 18 years at symptoms onset; presentation consistent with ON; negativity of anti-aquaporin 4 antibodies (AQP4). Only patients who were tested for MOG-IgG1-ab with a live cell-based assay were included. RESULTS: 22 patients (10 MOG-ab-positive and 12 MOG-ab-negative) were included. Fundus oculi examination at onset showed disc swelling in 9/10 in the MOG-ab-positive cohort and 2/10 in the seronegative group (P = 0.002). Retinal Fiber Nerve Layer (RFNL) thickness measured by Spectral Domain Optical Coherence Tomography (S-OCT) was increased in the 5/5 MOG-ab-positive patients tested and was normal or reduced in the seronegative patients tested (4/4 patients) (P = 0.024). Visual acuity impairment at onset did not differ significantly between the two groups, but the MOG-ab-positive cohort showed better recovery at follow-up both regarding visual acuity (P = 0.025) and expanded disability status scale (EDSS) (P = 0.013). A final diagnosis of MS was frequent among seronegative patients (6/12, 50%), whereas none of the MOG-ab-positive group received a diagnosis of MS (P = 0.015). Clinical relapse frequency was low in both groups: 2/10 MOG-ab-positive and 2/12 seronegative cases relapsed, with a median follow up of 25 months. CONCLUSION: optic disc swelling and increased RFNL at baseline are strongly associated with MOG-ab positivity. MOG-ab-positive patients with ON showed better recovery compared to the seronegative ones. The relapse rate was low and did not differ among the two groups.

Choroidal Freckling in Pediatric Patients Affected by Neurofibromatosis Type 1.

Greater understanding of choroidal freckling in patients affected by neurofibromatosis type 1 (NF1) has changed the previous belief that choroidal lesions are unusual in eyes with this disease. In fact, the high frequency of freckling suggests that the choroid is a structure commonly affected in patients with NF1. A review of patients aged 16 years or younger was performed. Recent studies using near-infrared reflectance imaging have shown that choroidal freckling frequently occurred in pediatric patients. As a result of these findings, some authors have suggested that choroidal freckling should be considered as a new diagnostic criterion for NF1. [J Pediatr Ophthalmol Strabismus. 2016;53(5):271-274.].

Orbital and Periorbital Extension of Congenital Dacryocystoceles: Suggested Mechanism and Management.

Orbital and periorbital extension of congenital dacryocystoceles is rarely observed in neonatal infants. The authors describe 4 cases of congenital dacryocystocele that presented with extension to the orbital and periorbital regions. The first 3 newborns underwent marsupialization of the orbital and periorbital dacryocystoceles with aspiration of the purulent material followed by nasolacrimal duct probing after radiographic evidence of diffuse orbital or periorbital expansion. The fourth patient was successfully treated with an external dacryocystorhinostomy with excision of the enlarged cystic walls. Transconjunctival orbitotomy with sac marsupialization followed by nasolacrimal intubation can provide immediate and permanent resolutions of this unusual complication in most instances. External dacryocystorhinostomy may be required, however, when the orbital or periorbital dacryocystocele is complicated by acute or recurrent dacryocystitis.

Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population.

PURPOSE: To investigate choroidal abnormalities in paediatric patients with neurofibromatosis type 1 (NF1) detected by near-infrared reflectance (NIR) retinography in order to evaluate diagnostic accuracy. METHODS: Seventy-eight paediatric patients with NF1, diagnosed according to the National Institutes of Health (NIH) criteria, and 96 healthy control subjects matched for age were examined. Enrolled patients were under 16 years old. The presence of choroidal abnormalities was investigated by confocal scanning laser ophthalmoscopy. Main outcome measure was to evaluate diagnostic accuracy in paediatric patients compared with the NIH criteria. RESULTS: Seventy-eight patients with NF1 (41 female, 37 male; mean age 8.1 ± 3.5 years) were compared with 96 healthy control subjects (42 female, 54 male; mean age 8 ± 3 years). Choroidal abnormalities were observed in 54 (69.2%) of the patients with NF1. As regards the fundus topographical distribution, choroidal abnormalities were more frequent at the posterior pole with a statistically significant correlation between patient age and the number of involved choroidal areas (Spearman r = 0.23; p < 0.04). No choroidal abnormalities were present in the control group. Detection accuracy of choroidal nodules was 70%. CONCLUSION: Choroidal abnormalities appearing as bright patchy regions detected by NIR imaging occurred very frequently in paediatric patients affected by NF1. The present study appears to show that NIR used to detect choroidal involvement allows for elevated diagnostic accuracy.

Primary diffuse leptomeningeal gliomatosis in children: a clinical pathologic correlation.

PURPOSE: To describe a rare case of primary diffuse leptomeningeal gliomatosis (PDLG) presenting with progressive proptosis and direct involvement of the optic nerve sheath in a child and review of the relevant literature. METHODS: Retrospective review of a single case and systematic literature review of 26 biopsy-proven cases reported in the MEDLINE-indexed English literature. A 10-year-old girl developed proptosis and progressive visual loss associated with thickening of the optic nerve sheaths and dilation of the subarachnoid spaces with multilobulated appearance of the brain meninges and thickened peripheral nerve root sheaths. Biopsy of the optic nerve sheath was diagnostic. The patient underwent chemotherapy combined with oral temozolomide and conformational radiotherapy to the brain and spine. She died 3 years after the onset of the disease. An extensive review of the published literature using the key words "primary diffuse leptomeningeal gliomatosis" and "optic nerve" confirmed the case herein reported to be the first case of primary diffuse leptomeningeal gliomatosis in which direct optic nerve infiltration was demonstrated during the course of the disease. RESULTS: Immunohistochemistry demonstrated expression of CD56 and glial fibrillary acidic protein, and an elevated level of Ki-67; all the other markers were negative. CONCLUSIONS: According to a comprehensive literature review, we report the first case of PDLG that presented with bilateral proptosis and direct involvement of the optic nerve during the course of the disease. These new findings may explain an alternative mechanism of visual loss and proptosis in PDLG. We emphasize the importance of close collaboration between neurologists and ophthalmologists in all cases of visual symptoms associated with a neurologic condition. In case of optic nerve involvement, ophthalmologists could provide an easier route to achieve tissue specimen early in the course of this rare and fatal disease.

Agreement in detecting glaucomatous visual field progression by using guided progression analysis ?and Humphrey overview printout.

PURPOSE: To examine the level of agreement among 3 clinicians in assessing glaucoma visual field progression by using 2 different methods. METHODS: Each visual field was assessed by Humphrey Field Analyzer (HFA), program SITA standard 30-2 or 24-2. In each printout the first 3 fields were excluded to minimize learning effect: the fourth and fifth full-threshold or SITA Standard examinations were used as baseline. Three clinicians assessed the progression status of each series using both HFA overview printouts and the guided progression analysis (GPA). The level of agreement among the clinicians was evaluated using a weighted kappa statistic (k). RESULTS: A total of 510 tests, comprising 83 eyes with an average of 6.1 tests each, was assessed by the 3 specialists. The mean follow-up time was 5.8 ± 1.75 years (mean ± standard deviation). When the intraobserver intermethod agreement was evaluated, k ranged from 0.5 to 0.7. When the interobserver agreement was analyzed, if HFA overview printouts were used, k ranged from 0.4 to 0.7. But when GPA was used, k ranged from 0.2 to 0.6. The level of agreement on progression status between the clinicians was always higher when they used HFA overview printouts (median k = 0.54) than when they used GPA (median k = 0.37). CONCLUSIONS: Agreement among expert clinicians about visual field progression status was moderate when GPA printouts were used. Clinicians' agreement about patients' visual field progression status was better when HFA overview printouts were used than with GPA printouts.

Oxidative DNA damage in the human trabecular meshwork: clinical correlation in patients with primary open-angle glaucoma.

OBJECTIVE: To evaluate the intensity of oxidative molecular damage and its clinical correlations: visual field damage, intraocular pressure, age, and disease duration. METHODS: DNA was extracted from human trabecular meshwork specimens collected from 17 glaucoma-affected patients using standard filtration surgery. Twenty-one specimens from healthy eyes collected for cornea transplants serve as controls. Oxidative DNA damage was evaluated by determining 8-hydroxy-2'-deoxyguanosine levels. All patients underwent a Humphrey 30-2 visual field examination and diurnal tonometry before surgery. RESULTS: The mean +/- SD DNA oxidative damage was 8.51 +/- 5.44 and 1.75 +/- 1.80 8-hydroxy-2'-deoxyguanosine molecules/10(5) normal nucleotides in patients with glaucoma and controls, respectively. A statistically significant correlation was found among human trabecular meshwork DNA oxidative damage, visual field damage, and intraocular pressure. No other statistically significant correlations were found. CONCLUSIONS: Oxidative stress may represent an important pathogenetic step in primary open-angle glaucoma because it could induce human trabecular meshwork degeneration, favoring an intraocular pressure increase, thus priming the glaucoma pathogenetic cascade.

Comparison of three techniques for repair of involutional lower lid entropion: a three-year follow-up study.

OBJECTIVE: The aim of this study was to quantify the efficacy of three different surgical techniques for entropion repair in a 3-year follow-up study: (1) the Fox procedure, (2) everting sutures and (3) a modified technique of lower lid retractor plication. METHODS: We included in our study 32 eyelids of 32 consecutive patients with involutional lower lid entropion; 10 lids underwent the Fox procedure, 13 the everting sutures and 9 the modified retractor plication. We evaluated the pre- and postoperative horizontal lid laxity (HLL), the pre- and postoperative lower lid excursion (LLE) and the number of recurrences in each patient group. Statistical analysis was performed with the non-parametric Mann-Whitney test and the exact Fisher's test where appropriate. RESULTS: Only the modified retractor plication technique showed statistically significant differences in HLL and LLE (p < 0.05). In the group treated with this technique, there was a lower incidence of entropion recurrence (p < 0.05). The everting suture technique showed a statistically significant improvement of the LLE only (p < 0.05). The Fox procedure did not show any statistically significant improvement of the studied parameters. CONCLUSIONS: The modified retractor plication technique gave the best results in terms of improvement of HLL and LLE and a lower incidence of entropion recurrence compared to the two other techniques studied.