Predictors of disease course and long-term outcomes of idiopathic intracranial hypertension in children and adolescents.

This study aimed to identify predictors for unfavorable disease course and clinical and visual outcomes in pediatric patients with idiopathic intracranial hypertension (IIH). Employing a multi-tiered approach, we retrospectively analyzed clinical, ophthalmic, and neuroimaging data from patients diagnosed with IIH between 2003 and 2021. Of the 97 patients included, 56 (58%) were females. The median age was 12 years [Interquartile range (IQR) 9, 14], and the median follow-up time was 39.0 months (IQR 14.8, 90.9). Forty-two (43%) patients had an unfavorable disease course, 28 (29%) had persistence of headache at last follow-up, and 16 (18%) had a poor visual outcome, most of them with mild visual disturbances. Poor visual outcome was more common in females compared to males [16/47 (34%) vs. 0/39, p < 0.001)]. On multivariate regression analysis, female sex and disease recurrence were significantly associated with poor visual outcomes (OR: 18.5, CI:1.3-270, P = 0.03, and OR: 5.1, CI: 1.2-22.5, P = 0.03, respectively). Patients with persistent headaches exhibited lower incidence of papilledema, lower opening pressure, and fewer neuroimaging markers indicating elevated intracranial pressure. CONCLUSIONS: This study provides insights into predictive factors for an unfavorable disease course, persistent headaches, and poor visual outcomes in patients with childhood IIH. Patients with persistent headaches may have a variant of a chronic pain syndrome warranting a different therapeutic approach. WHAT IS KNOWN: • Childhood-onset Idiopathic Intracranial hypertension (IIH) is a heterogenous disease. The knowledge on disease trajectory and long-term outcomes and its predictors is limited. WHAT IS NEW: • A higher opening pressure and factors suggestive of the metabolic syndrome predict an unfavorable disease course whereas female sex and disease recurrence are significantly associated with poor visual outcomes • A third of the patients diagnosed with IIH experience ongoing headaches despite achieving favorable visual outcomes. This subset, characterized by lower disease-severity indicators at onset may represent a distinct subgroup warranting a different therapeutic approach.

Congenital ptosis repair in children: comparison of frontalis muscle suspension surgery and levator muscle surgery.

PURPOSE: Comparing the surgical and refractive outcomes of congenital ptosis repair by different surgical techniques. METHODS: This longitudinal cohort study reviewed medical records of 101 patients who underwent congenital ptosis repair, from 2006 to 2022 in a single center. Analysis was performed for demographic background, co-morbidities, pre-operative and post-operative ocular examinations and refraction, complications, reoperations, and success rates. RESULTS: Following exclusion criteria, we remained with 80 patients (103 eyes) who underwent either frontalis muscle suspension surgery (FMS) (55 eyes) or levator muscle surgery (LM) (48 eyes). Patients in the FMS group were younger (mean age of 3.1 vs. 6.0 years, p < 0.001) and had worse pre-operative ocular assessments including prevalence of visual axis involvement, chin-up head position, ptosis severity, and levator muscle function (LF) (p < 0.001). Both groups had a 25% rate of reoperation, however while in the LM group reoperation was required solely due to undercorrection, in the FMS group various indications prompted reoperation. Success rate was higher in the FMS group (87.3% vs. 60.4%, p = 0.002). While pre-operative astigmatism was higher in the LM group (p = 0.019), no significant differences were observed post-operatively. Spherical and spherical equivalent changes over time were significant only in the FMS group (p = 0.010 and p = 0.004, respectively). CONCLUSIONS: Within our cohort, a higher success rate of congenital ptosis repair was observed among patients who underwent FMS compared to LM, despite similar reoperation rates. In cases of severe ptosis and moderate LF, LM demonstrated a lower-than-anticipated success rate. Astigmatic changes following ptosis repair were not consistent in either group.

Sleep Disturbances in Adolescents With Idiopathic Intracranial Hypertension.

BACKGROUND: We aimed to assess the presence of sleep disturbances in adolescents with idiopathic intracranial hypertension (IIH) and to determine whether demographic, anthropometric, and clinical factors are associated with disrupted sleep. METHODS: Sleep disturbances and patterns were evaluated in a cohort of adolescents (aged 12 to 18 years) with ongoing IIH and compared with a healthy age- and sex-matched control group. All participants responded to three self-rating questionnaires: the School Sleep Habits Survey (SSHS), the Pediatric Sleep Questionnaire (PSQ), and the Depression, Anxiety, and Stress Scale. The study group's demographic, clinical, laboratory, and radiological data were documented, and their association with sleep patterns was examined. RESULTS: Thirty-three adolescents with ongoing IIH and 71 healthy controls were included. There was a significantly higher prevalence of sleep disturbances in the IIH group compared with the controls (SSHS, P < 0.001 and PSQ, P < 0.001), as well as of their independent subscales: sleep-related breathing disorders (P = 0.006), daytime sleepiness (P = 0.04), sleep/wake disruptions (P < 0.001), and sleep-related depressive tendencies (P < 0.001). According to subgroup analyses, these differences were also present between the normal-weight adolescents but not between the overweight IIH and control adolescents. No differences were found in the demographic, anthropometric, and IIH disease-related clinical measures between individuals with IIH with disrupted and normal sleep patterns. CONCLUSIONS: Sleep disturbances are common among adolescents with ongoing IIH, irrespective of their weight and disease-related characteristics. Screening adolescents with IIH for sleep disturbances is recommended as part of their multidisciplinary management.

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.

Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males. We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior segment dysgenesis, cataracts, and retinal involvement. The unique condition of biallelic mosaic loss-of-function mutations leads to a variable expression of an allele with the pathogenic variant, independent of the X-Inactivation pattern. This novel mechanism of co-existent biallelic mosaicism should be suspected in unexplained severe cases of OFCD.

A Consensus Statement on the Terminology for Automated Visual Field Abnormalities.

BACKGROUND: A multitude of terms have been used to describe automated visual field abnormalities. To date, there is no universally accepted system of definitions or guidelines. Variability among clinicians creates the risk of miscommunication and the compromise of patient care. The purposes of this study were to 1) assess the degree of consistency among a group of neuro-ophthalmologists in the description of visual field abnormalities and 2) to create a consensus statement with standardized terminology and definitions. METHODS: In phase one of the study, all neuro-ophthalmologists in Israel were asked to complete a survey in which they described the abnormalities in 10 selected automated visual field tests. In phase 2 of the study, the authors created a national consensus statement on the terminology and definitions for visual field abnormalities using a modified Delphi method. In phase 3, the neuro-ophthalmologists were asked to repeat the initial survey of the 10 visual fields using the consensus statement to formulate their answers. RESULTS: Twenty-six neuro-ophthalmologists participated in the initial survey. On average, there were 7.5 unique descriptions for each of the visual fields (SD 3.17), a description of only the location in 24.6% (SD 0.19), and an undecided response in 6.15% (SD 4.13). Twenty-two neuro-ophthalmologists participated in the creation of a consensus statement which included 24 types of abnormalities with specific definitions. Twenty-three neuro-ophthalmologists repeated the survey using the consensus statement. On average, in the repeated survey, there were 5.9 unique descriptions for each of the visual fields (SD 1.79), a description of only the location in 0.004% (SD 0.01), and an undecided response in 3.07% (SD 2.11%). Relative to the first survey, there was a significant improvement in the use of specific and decisive terminology. CONCLUSIONS: The study confirmed a great degree of variability in the use of terminology to describe automated visual field abnormalities. The creation of a consensus statement was associated with improved use of specific terminology. Future efforts may be warranted to further standardize terminology and definitions.

Surgical outcomes of medial Rectus advancement for consecutive exotropia.

PURPOSE: To evaluate the surgical results of medial rectus muscle advancement for consecutive exotropia. METHODS: The medical data of patients that underwent reoperation between the years 2000-2020 were collected and reviewed retrospectively. Patients who underwent medial rectus advancement for consecutive exotropia were included. The exclusion criteria were follow-up period shorter than 6 months, past reoperations and restrictive or paralytic strabismus. Success was defined as alignment within 10 PD of orthophoria at last follow-up. The success group of patients was compared with the failure group. RESULTS: Twenty patients with mean postoperative follow-up from the second surgery of 34.7 ± 29.2 months were included. On last follow-up examination, 9 (45.0%) patients had a successful result. Nine patients had undercorrection and 2 had overcorrection. The two groups were similar in the preoperative amount of mean exotropia, 23.3 ± 9.9 PD in the success group and 29.8 ± 14.0 PD in the failure group. On last follow-up examination, the amount of mean deviation was 2.7 ± 2.6 PD exotropia in the success group and 13.4 ± 23.6 PD exotropia in the failure group. CONCLUSION: Medial rectus advancement for the correction of consecutive exotropia was successful in almost half of the cases. Failure was usually due to undercorrection.

Radiologically isolated aquaporin-4 antibody neuromyelitis optica spectrum disorder.

Aquaporin-4 antibody (AQP4-Ab) Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare neuroinflammatory syndrome presenting predominantly with optic neuritis and transverse myelitis. We report a case of radiologically isolated longitudinally extensive optic neuritis in an asymptomatic 12-year-old female with positive serum AQP4-Ab, with resolution of imaging changes after immune therapy. By contrast to patients with radiologically isolated syndrome, of which some will never convert to multiple sclerosis, the pathogenicity of AQP4-Ab in the context of sub-clinical disease, supported treatment in our patient. Given the severe morbidity in AQP4-Ab NMOSD, prognostic biomarkers for disease severity are required to guide optimal therapy for patients.

A novel device for assessment of amblyopic risk factors in preverbal and verbal children-a pilot study.

OBJECTIVES: This paper evaluates the accuracy of the Eye-N-JOY (ENJ), a novel device (Patent no. US 9844317 B2), for identifying the presence of amblyopic risk factors. This device was developed to assess both visual acuity, ocular alignment, and eye movement; all while watching images on a tablet screen. METHODS: A prospective, single-center, comparison study. Participants were examined by the ENJ first and then underwent a comprehensive full eye examination by pediatric ophthalmologists including cycloplegic refraction. Both the technician operating the ENJ and the physicians were masked to each other's findings. Children aged 18-72 months (1.5 to 6 years) attending a tertiary medical center for a full standard pediatric ophthalmology examination were included. The visual acuity and alignment were compared between the ENJ and the gold standard full ophthalmologic examination. The differences were noted, and the sensitivity and specificity were calculated. RESULTS: A total of 51 children were enrolled, 33 (64.7%) girls, aged 18-72 months. All children successfully completed the examination by the ENJ. No significant difference between the ENJ and the reference examination was detected in visual acuity measurements in both eyes (Pv = 0.553 for the right eye and 0.803 for the left). Overall agreement between all referral indications between the ENJ and reference examination was 84.3%, with 90.9% agreement in VA referral criteria and 90.1% in alignment referral criteria. CONCLUSIONS: Eye-N-Joy can reliably examine both visual acuity and ocular misalignment in verbal and pre-verbal children.

Outcomes of half-width vertical rectus transposition augmented with posterior fixation sutures for sixth cranial nerve palsy.

AIM: To describe the experience with half-width vertical muscles transposition (VRT) augmented with posterior fixation sutures. METHODS: The clinical charts of all patients, who underwent half-width VRT augmented with posterior fixation sutures for sixth cranial nerve palsy from January 2003 to December 2018, were retrospectively reviewed. For each patient, pre- and post-operatively, the largest measured angle was used for the calculations, usually resulting with the angle for distance, except in young infants, where measurements were made at near fixation using the Krimsky test. RESULTS: Fifteen patients met the inclusion criteria for the study, of them 9 (60.0%) had also medial rectus muscle recession at the time of surgery. Mean follow-up period was 21.4±23.2mo (range 1.5-82mo). Preoperative mean esotropia was 51.3±19.7 prism diopter (PD; range 20-90 PD). Postoperative mean deviation on final follow-up was 7.7±20.2 PD (range -40 to 35 PD; P=0.018). In all patients with preoperative abnormal head position, improvement was noted. Ten (66.7%) patients had improvement in abduction and 10 (66.7%) patients reported improvement in their diplopia, by final follow-up. The addition of medial rectus recession was correlated with a larger change in postoperative horizontal deviation compared to baseline (P=0.026). Two (13.3%) patients developed a vertical deviation in the immediate postoperative period which had resolved in one of them. CONCLUSION: Half-width VRT augmented with posterior fixation suture, with or without medial rectus muscle recession, is an effective and safe procedure for esotropia associated with sixth cranial nerve palsy. A major improvement in the angle of deviation is expected. Most patients will have improvement in their abnormal head position and diplopia.

Surgical success of lateral rectus resection for residual and recurrent esotropia.

PURPOSE: To assess the surgical outcomes of reoperations for residual and recurrent esotropia. METHODS: A retrospective chart review of all patients who underwent surgery during 2000-2017 at a tertiary referral medical center for recurrent or residual esotropia was conducted. Patients who underwent bilateral medial rectus recession as primary surgery and lateral rectus resection as second surgery were included. The success rate of second surgery and its association to various factors were examined. Success of reoperation was defined as mean deviation of < 10 prism diopters (= PD) at last follow-up. RESULTS: Twenty-seven patients with mean post-operative follow-up of 50.4 ± 31.7 months were included. On last follow-up examination, 15 (55.6%) patients had a successful reoperation and 12 (44.4%) patients had unsuccessful reoperation. The two groups were similar in the pre-operative amount of esotropia for distance and near. On last follow-up examination, the amount of mean deviation was 1.9 PD esotropia (8 PD exotropia to 9 PD esotropia) in the success group and 11.2 PD esotropia (22.5 PD exotropia to 35 PD esotropia) in the failure group. In the failure group, 75.0% of patients were under-corrected (esotropia of ≥ 10 PD) on last follow-up examination. CONCLUSION: Strabismus reoperation in cases of residual or recurrent esotropia was successful in slightly more than half of the patients. Surgical failure was more commonly associated with undercorrection and less with overcorrection.

Surgical interventions for infantile nystagmus syndrome.

BACKGROUND: Infantile nystagmus syndrome (INS) is a type of eye movement disorder that can negatively impact vision. Currently, INS cannot be cured, but its effects can potentially be treated pharmacologically, optically, or surgically. This review focuses on the surgical interventions for INS. Despite the range of surgical interventions available, and currently applied in practice for the management of INS, there is no clear consensus, and no accepted clinical guidelines regarding the relative efficacy and safety of the various treatment options. A better understanding of these surgical options, along with their associated side effects, will assist clinicians in evidence-based decision-making in relation to the management of INS. OBJECTIVES: To assess the efficacy and safety of surgical interventions for INS. SEARCH METHODS: We searched CENTRAL, MEDLINE Ovid, Embase Ovid, ISRCTN registry, ClinicalTrials.gov, and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) to 3 July 2020, with no language restrictions. SELECTION CRITERIA: We included randomised controlled trials (RCTs) studying the efficacy and safety of surgical options for treating INS. DATA COLLECTION AND ANALYSIS: Our prespecified outcome measures were the change from baseline in: binocular best-corrected distance visual acuity; head posture; amplitude, frequency, intensity, and foveation period durations of the nystagmus waveform; visual recognition times; quality of life and self-reported outcome measures; incidence of adverse effects with a probable causal link to treatment; and permanent adverse effects after surgery. Two review authors independently screened titles and abstracts and full-text articles, extracted data from eligible RCTs, and judged the risk of bias using the Cochrane tool. We reached consensus on any disagreements by discussion. We summarised the overall certainty of the evidence using the GRADE approach. MAIN RESULTS: We only identified one eligible RCT (N = 10 participants), undertaken in India. This trial randomised participants to receive either a large retro-equatorial recession of the horizontal rectus muscle of 9 mm on the medial rectus and 12 mm on the lateral rectus, or a simple tenotomy and resuturing of the four horizontal rectus muscles. We did not identify any RCTs comparing a surgical intervention for INS relative to no treatment. In the single eligible RCT, both eyes of each participant received the same intervention. The participants' age and gender were not reported, nor was information on whether participants were idiopathic or had sensory disorders. The study only included participants with null in primary position and did not explicitly exclude those with congenital periodic alternating nystagmus. The study did not report funding source(s) or author declaration of interests. The evaluation period was six months. We judged this study at low risk for sequence generation and other sources of bias, but at high risk of bias for performance and detection bias. The risk of bias was unclear for selection bias, attrition bias, and reporting bias. There is very uncertain evidence about the effect of the interventions on visual acuity and change in amplitude, frequency, and intensity of the nystagmus waveform. We were unable to calculate relative effects due to lack of data. None of the participants in either intervention group reported adverse effects at six-month follow-up (very low-certainty evidence). There was no quantitative data reported for quality of life, although the study reported an improvement in quality of life after surgery in both intervention groups (very low-certainty evidence). Change in head posture, foveation period durations of the nystagmus waveform, visual recognition times, and permanent adverse effects after surgery were not reported in the included study. We judged the certainty of the evidence, for both the primary and secondary efficacy outcomes, to be very low. Due to a lack of comprehensive reporting of adverse events, there was also very low-certainty of the safety profile of the evaluated surgical interventions in this population. As such, we are very uncertain about the relative efficacy and safety of these interventions for the surgical management of INS. AUTHORS' CONCLUSIONS: This systematic review identified minimal high-quality evidence relating to the efficacy and safety of surgical interventions for INS. The limited availability of evidence must be considered by clinicians when treating INS, particularly given these procedures are irreversible and often performed on children. More high-quality RCTs are needed to better understand the efficacy and safety profile of surgical interventions for INS. This will assist clinicians, people with INS, and their parents or caregivers to make evidence-based treatment decisions.

Visual function tests including the role of optical coherence tomography in neurofibromatosis 1.

Optic pathway glioma (OPG) is a common and significant complication of neurofibromatosis 1 (NF-1) that might lead to vision loss. The main reason to treat OPG is to preserve vision. Tumor location along the visual pathway largely dictates the presenting signs and symptoms. Clinical ophthalmic evaluation is focused on optic nerve functions including evaluation of pupils' reaction to light, visual acuity, color vision, and visual field, as well as optic nerve appearance. An important relatively new ancillary test is optic coherence tomography (OCT) that measures the volume of retinal nerve fiber layer around the optic nerve and the ganglion cell layer-inner plexiform layer (GCL-IPL) of the macula, both proved to be strongly associated with losing vision in OPG. Accurate evaluation of vision functions plays a critical role in the decision of treatment. In this review, we describe the ophthalmological assessment including new biomarkers in clinical use. We also outline prognostic factors and current recommendations for surveillance and indications for treatment.

The Clinical Utility of Inpatient Brain Magnetic Resonance Imaging in Children.

The clinical applicability and yield of brain magnetic resonance imaging (MRI) in the setting of an inpatient pediatric department has not been investigated. The authors performed a retrospective chart review of nontraumatic/nonneurosurgical children who underwent brain MRI during their hospitalization in a general pediatric department over a 5-year period. Of the 331 children who underwent brain MRI, 148 (45%) had abnormal findings. High-risk headaches and focal seizures were significantly correlated with findings on brain MRI. Diagnostic and therapeutic yields were most significant in acute demyelinating events, acute cerebrovascular disorders, high-risk headaches when supported by neurologic and ophthalmologic findings, focal seizures with evidence of multifocal epileptic activity on an electroencephalogram and ophthalmic complaints when accompanied by cranial nerve palsy and optic nerve impairment. Since the contributions of a brain MRI in hospitalized children is pivotal in specific clinical situations, a judicious decision-making process should be done before its scheduling, in order to optimize clinical care.

Why bilateral medial rectus recession fails? Factors associated with early repeated surgery.

BACKGROUND: To explore the risk factors for failure of bilateral medial rectus muscle recession (BMR) for esotropia. METHODS: We reviewed 171 consecutive patients with esotropia who underwent bilateral medial rectus muscle recession as a primary procedure from January 2009 to December 2011. Patients with infantile, partially accommodative and acquired esotropia were included. We compared patients who required more than one surgery to patients who only had one operation. RESULTS: A total of 171 patients (89 males, 52%, mean age 5.1 ± 6.0 years, range 0.4-51 years) fulfilled the inclusion criteria and comprised the study population. Mean follow-up period was 17.4 ± 15.5 months (range 1-65 months). A second strabismus surgery was performed in 17 (9.9%) cases within a mean time of 11.7 ± 9.2 months (range 0.4-27.7 months) from the initial surgery. Univariate analysis demonstrated that in patients younger than 1 year the odds ratio (OR) of failure was 4.00 (95% CI 1.12-14.35, p = 0.033) and for patients older than 7 years the OR of surgical failure was 3.27 (95% CI 1.10-9.76, p = 0.033). In addition, patients with esotropia > 60 prism diopters (PD) had a trend towards needing further surgery (OR = 3.91, 95% CI 0.93-16.44, p = 0.063). A multivariate model of regression revealed that age and angle of esotropia > 60 PD remained significant risk factors for requiring additional surgeries. CONCLUSIONS: In our cohort of patients who underwent BMR for esotropia, a large angle of esotropia and age were associated with failure of surgery and need for reoperation.