A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence-based literature. We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. METHODS: We compiled the key recognized clinical features of AS based on consensus from a team of specialists managing patients with AS. Working groups were established to address each focus area with committees comprised of providers who manage >5 individuals. Committees developed management guidelines for their area of expertise. These were compiled into a final document to provide a framework for standardizing management. Evidence from the medical literature was also comprehensively reviewed. RESULTS: Areas covered by working groups in the consensus document include genetics, developmental medicine, psychology, general health concerns, neurology (including movement disorders), sleep, psychiatry, orthopedics, ophthalmology, communication, early intervention and therapies, and caregiver health. Working groups created frameworks, including flowcharts and tables, to help with quick access for providers. Data from the literature were incorporated to ensure providers had review of experiential versus evidence-based care guidelines. CONCLUSION: Standards of care in the management of AS are keys to ensure optimal care at a critical time when new disease-modifying therapies are emerging. This document is a framework for providers of all familiarity levels.

Comparison of Two Photoscreeners in a Population of Syrian Refugee Children.

PURPOSE: To evaluate children in the Za'atari refugee camp in Jordan to better understand the prevalence of ocular pathology and to compare two photoscreening devices to evaluate their utility. METHODS: Families at the Syrian American Medical Society Clinic were offered vision screening for children aged 1 to 18 years. Participants were offered visual acuity measurement and photoscreening with two devices approved for use in the United States. If visual acuity in either eye was worse than 20/40 or either photoscreening device indicated possible pathology, a complete eye examination was performed with cycloplegic refraction and dilated examination. RESULTS: Ninety-one participants completed the screening protocol. The average age of participants who completed the study was 7.8 years (range: 1 to 16 years). Twenty-eight participants (30.8%) failed at least one screening component. In this population, the following pathology was identified: astigmatism (12.1%), esotropia (9.9%), amblyopia (9.9%), hyperopia (7.7%), exotropia (3.3%), and myopia (1.1%). The Plusoptix vision screener (Plusoptix) had a sensitivity of 100% for the identification of amblyopia and 85% specificity. The GoCheck Kids application (Gobiquity) had a sensitivity of 66.67% for the identification of amblyopia and 94% specificity. The positive predictive value for the Plusoptix vision screener and the GoCheck Kids application for the detection of amblyopia risk factors was 77% for both. CONCLUSIONS: The high rate of ophthalmic pathology identified in this study reinforces the urgent need for proper vision screening and intervention in this population. [J Pediatr Ophthalmol Strabismus. 2021;58(6):396-400.].

Cell Phone Selfies: Clinching the Diagnosis of Iris Microhemangiomatosis.

Four patients presented with a history of "blood" or a "dark spot" in the eye captured on cell phone photos. These episodes prompted presentation to an ophthalmologist where they all had normal slit lamp exams without a hyphema at initial evaluation. With evidence of a spontaneous hyphema seen on photos, further testing was performed including iris fluorescein angiography which revealed hyperfluorescent iris margin vascular tufts, confirming the diagnosis of iris microhemangiomatosis in each patient. All cases were managed conservatively, and only 1 needed topical antihypertensives. Without these patient-initiated photos, the diagnosis of iris microhemangiomatosis would likely remain elusive as slit lamp exam was normal at the time of initial examination in all 4 cases. Ophthalmologists should be aware of this rare diagnosis in the event a patient comes with a cell phone selfie documenting a spontaneous hyphema, especially when emanating from pupillary border.

Clinical and demographic differences between idiopathic intracranial hypertension patients with mild and severe papilledema.

PURPOSE: The purpose of this study was to evaluate whether papilledema severity is associated with specific demographic or clinical factors in patients with idiopathic intracranial hypertension (IIH). MATERIALS AND METHODS: A retrospective cohort study of consecutive IIH patients seen at one tertiary care institution between 1989 and March 31, 2017 was performed. IIH patients were classified as mild (Frisén Grade 1 or 2) or severe (Frisén Grade 4 or 5) based on grading of fundus photographs obtained at first presentation. Demographic and clinical variables including age, body mass index (BMI), gender, visual acuity, Humphrey visual field mean deviation, and cerebrospinal fluid (CSF) opening pressure were extracted from patient medical records for statistical analyses. RESULTS: A total of 239 patients were included in the study: 152 with mild papilledema and 87 with severe papilledema. There was no difference in age, race, BMI, or male gender between the mild and severe papilledema groups. CSF opening pressure was significantly higher in the severe papilledema group (41.89 cm of water vs. 33.69, 95% confidence interval [CI]: -10.79--5.62, P < 0.0001). There was a significant difference in the Humphrey mean deviation (-6.38 dB compared to - 3.25 dB, 95% CI: -4.82--1.44 dB, P < 0.001) and average logarithm of the minimum angle of resolution visual acuity at final follow-up (0.21 vs. 0.045, 95% CI: -0.299--0.040 , P = 0.01). CONCLUSION: Age, race, sex, and BMI were similar in IIH patients with mild versus severe papilledema, emphasizing the importance of a dilated fundus examination to reliably stratify patients. Patients with severe papilledema are at higher risk of visual acuity and visual field loss at final follow-up.

Retinoinvasive Uveal Melanoma: Report of 2 Cases and Review of the Literature.

PURPOSE: To describe the clinical history and histopathologic findings of 2 cases of retinoinvasive uveal melanoma. METHODS: The medical records and pathology specimens of 2 patients with retinoinvasive uveal melanoma were reviewed. RESULTS: The first patient had an iris/ciliary body melanoma that was treated and the second patient had suspected iridocorneal endothelial syndrome. Both patients developed a blind, painful eye; the first patient's right eye was enucleated and the left eye of the second patient underwent evisceration. Histopathologic examination of the enucleated eye showed a tumor composed of minimally pigmented spindle-shaped cells with fusiform nuclei and prominent nucleoli and round cells with prominent nucleoli. The tumor cells invaded into the retina where they formed perivascular aggregates. Examination of the evisceration specimen showed a proliferation of pigmented tumor cells within the stroma of one iris leaflet. The tumor cells extended onto the ciliary body and vitreous base and invaded the retina. The pathologic diagnosis in both patients was retinoinvasive uveal melanoma. CONCLUSIONS: Careful funduscopic and imaging examination should be performed in eyes with unilateral glaucoma with iris/ciliary body lesions, and enucleation, rather than evisceration, should be performed, as retinoinvasive melanoma is in the differential diagnosis.

Comparing distance visual acuity measurement with a novel eye chart and the Landolt C chart in a population of children aged 6-18 years.

PURPOSE: The Handy Eye Chart™ is designed to assist in evaluating the visual acuity of patients with non-standard communication styles. The Handy Eye Chart™ has been previously validated against the early treatment diabetic retinopathy study (ETDRS) chart. The aim of this research is to compare visual acuity outcomes with The Handy Eye Chart™ against the international gold standard, the Landolt C chart, in a population of children. METHODS: Sixty participants between the ages of 6 and 18 were recruited at the Pediatric Section of the Department of Ophthalmology at the Emory Eye Center. Visual acuity was evaluated using The Handy Eye Chart™ and the Landolt C Chart, altering the order of administration between charts. The visual acuity data were compared using t test, linear regression, and Bland-Altman analysis. RESULTS: The mean difference in visual acuity was 0.02 logMAR (CI 0.009-0.04, p = 0.002). The correlation coefficient was 0.98. The Bland-Altman analysis shows the 95% limits of agreement between the charts to be -0.14 to 0.09 logMAR. CONCLUSIONS: The Handy Eye Chart™ is a valid measure of visual acuity when compared with the international gold standard, the Landolt C Chart.