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.

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.

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.

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