Langerhans cell histiocytosis (LCH) is a condition characterized by clonal proliferation of the phagocytic cells derived from the bone marrow. In this article, we present an exceedingly rare case of congenital/neonatal LCH in a 3-week-old girl who initially presented with an isolated swelling of the eyelid, initially misdiagnosed as a chalazion. Subsequently, a biopsy was performed, and histopathological evaluation confirmed the diagnosis of LCH.
View Article and Find Full Text PDF: Retinitis pigmentosa GTPase regulator () gene mutations are a common cause of X-linked retinitis pigmentosa and X-linked cone-rod dystrophy. There have been no previous reports of association with crystalline retinopathy or pseudo-crystalline retinopathy.: We describe the history, clinical findings, retinal imaging, and electrodiagnostic studies of a patient with a tapetal-like reflex (TLR) and pseudo-crystalline retinopathy secondary to mutation.
View Article and Find Full Text PDFCase Rep Ophthalmol
November 2020
Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1.
View Article and Find Full Text PDFA 5-year-old boy had subacute painless visual loss in his left eye with disk edema, macular edema, and choroidal thickening. He was subsequently diagnosed with inflammatory papillitis and choroiditis from Crohn's disease. The disk and macular edema responded minimally to antivascular endothelial growth factor injections but significantly to intravitreal corticosteroids.
View Article and Find Full Text PDFThe mitogen-activated kinase pathway plays an important role in cell survival, and its dysregulation is associated with cancers such as melanoma. Drugs designed to target this pathway have been associated with serous retinal detachments in a new entity termed MEK inhibitor-associated retinopathy (MEKAR). MEKAR has classically been described as self-limiting, with serous fluid often resolving without discontinuation of the drug.
View Article and Find Full Text PDFPurpose: The purpose of this study is to evaluate the characteristics and publication outcomes of abstracts presented in American Academy of Ophthalmology (AAO) meetings.
Subject And Methods: Abstracts from AAO meetings for the years 2012 and 2013 were evaluated from the meeting archives. The study characteristics were recorded for each abstract.