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.
View Article and Find Full Text PDFOcul Oncol Pathol
June 2021
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.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
December 2021
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.
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.
Ocul Oncol Pathol
November 2017
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.
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.
View Article and Find Full Text PDFPurpose: To compare the results of visual acuity testing in a population of deaf children using the Handy Eye Chart versus the Lea Symbols Chart and to compare testability and preference between charts.
Methods: A total of 24 participants were recruited at the Atlanta Area School for the Deaf. Visual Acuity was evaluated using the Handy Eye Chart and the Lea Symbols Chart.