Isolated eyelid neonatal Langerhans cell histiocytosis.

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. A staging work-up revealed no evidence of multisystem involvement, and thus, local steroid injection was performed as the initial treatment for the residual lesion. Cases of localized LCH that manifest as eyelid masses are rare, and most reported cases involve children over the age of one year. To the best of our knowledge, this case represents the first reported instance of neonatal LCH presenting as an eyelid mass. Although neonatal LCH is rare, ophthalmologists must be aware of this presentation and include it in the differential diagnosis for eyelid lesions in infants during the first month of life.

Multimodal imaging of an RPGR carrier female.

Background: Retinitis pigmentosa GTPase regulator (RPGR) 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.Materials and Methods: 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 RPGR mutation.Case Description: Asymptomatic TLR secondary to RPGR mutation was diagnosed in a 14-year-old African American female with a family history of retinal dystrophy and no other past ophthalmic or medical history. Pseudo-crystalline retinopathy was observed on the Optos scanning laser ophthalmoscopy (SLO) imaging system but not on color fundus photography (CFP). Evidence of a TLR secondary to RPGR mutation was confirmed by CFP, autofluorescence, and genetic testing.Conclusion: We present a case of pseudo-crystalline retinopathy seen on Optos imaging in a patient with a TLR secondary to RPGR mutation.

Inflammatory choroiditis and papillitis from Crohn's disease in a child.

A 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.

Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1.

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. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally.

Characteristics and Fate of Abstracts Presented at American Academy of Ophthalmology Meetings.

PURPOSE: 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. Each abstract was assessed for publication in a peer-reviewed scientific journal using three search engines (PubMed, Medline, and Google Scholar). Time to publication was also calculated. RESULTS: A total of 929 abstracts presented to 2 AAO meetings were analyzed. Among subspecialty areas, retina represented the largest percentage of accepted meeting abstracts (33.3%) followed by cornea (21.9%), cataract (14.9%), and glaucoma (14.4%). A total of 304 abstracts (32.7%) were published in peer-reviewed journals as full-length articles. The median time to publication was 40 months, and the median impact factor of the journal for the published manuscript was 1.9. In multivariable models, topics related to glaucoma were most likely to be published followed by retina. The odds for publication were higher if the first author was affiliated with a residency program, and if the first author originated from South Korea and the United States. CONCLUSIONS: Our study presents the landscape of publication outcomes for abstracts presented in national AAO meetings with ~1/3 of presented abstracts culminated in publication in a peer-reviewed journal.

A Case of Non-Resolving MEK Inhibitor-Associated Retinopathy.

The 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. We present a case in which a patient undergoing treatment for metastatic melanoma with lacnotuzumab, a macrophage colony-stimulating factor inhibitor that blocks an upstream component of the mitogen-activated protein kinase pathway, developed serous retinopathy that did not resolve despite drug discontinuation.