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Idiopathic Intracranial Hypertension Triggering Hemifacial Spasm

Garcia, Maria D; Mansukhani, Sasha A; Chen, John J; Bhatti, M Tariq
ABSTRACT/UNASSIGNED:Idiopathic intracranial hypertension (IIH) is a syndrome associated with increased intracranial pressure without a clear underlying cause that is classically seen in young women. Patients typically present with headache and ocular findings, including disc edema and, less frequently, an abduction deficit. To make a diagnosis of IIH, other than cranial nerve 6 or 7 dysfunction, patients must have a normal neurologic examination. When cranial nerve 7 is affected patients can present with hemifacial spasm. We present the case of a young woman with IIH who had hemifacial spasm as one of the presenting symptoms. Her symptoms resolved once she was treated for IIH with acetazolamide.
PMID: 32833859
ISSN: 1536-5166
CID: 4953862

Orbital Cyst with Ependymal Differentiation Associated with Microphthalmia

Garcia, Maria D; Salomao, Diva R; Wagner, Lilly H
PMID: 32449400
ISSN: 1551-3823
CID: 4953852

Cobalt toxic optic neuropathy and retinopathy: Case report and review of the literature [Case Report]

Garcia, Maria D; Hur, Minjun; Chen, John J; Bhatti, M Tariq
Purpose/UNASSIGNED:We detail a case of cobalt toxicity with visual and systemic complications, review the pathogenic process for the optic neuropathy and retinopathy, and discuss the controversy of metallic hip prosthesis. Observations/UNASSIGNED:A 59-year-old female with a history of multiple left hip arthroplasties presented to our clinic with bilateral visual loss. The year prior, she had failure of the hip implant necessitating revision surgery with placement of a chrome-cobalt head. A few months after surgery, she began experiencing blurred and "white, spotty" vision in both eyes in addition to hypothyroidism, cardiomyopathy and neuropathy. The possibility of the patient's symptoms being due to cobalt toxicity from her hip prosthesis was proposed and she was found to have a serum cobalt level >1000 μg/L (normal 0-0.9 ng/mL). Visual acuity was 20/600 in the right and 20/800 in the left eye. There was bilateral temporal optic disc pallor. Goldmann visual field testing demonstrated bilateral central scotomas, optical coherence tomography (OCT) showed severe ganglion cell layer-inner plexiform layer (GCLIPL) thinning and multifocal electroretinography (mfERG) demonstrated decreased amplitudes in both eyes. She underwent a total hip revision arthroplasty with extensive debridement of "black sludge" found within a pseudocapsule. Four days after surgery, cobalt serum levels had significantly decreased to 378 ng/mL. One month after surgery, she had significant improvement in visual acuity (20/150 right eye, 20/250 left eye), Goldmann visual field testing, and mfERG. OCT showed retinal nerve fiber thinning and persistent GCLIPL thinning in both eyes. Conclusions and Importance/UNASSIGNED:Excessive cobalt levels can result in systemic toxicity leading to visual changes, peripheral neuropathy, hearing loss, cognitive deficits, cardiomyopathy and hypothyroidism. In recent years it has become apparent that cobalt toxicity can be associated with metal-on-metal total hip arthroplasty, or the grinding effects of retained ceramic particles from a fractured ceramic head on a cobalt-chromium femoral head prosthesis.
PMID: 32025592
ISSN: 2451-9936
CID: 4953842

Classification of Strokes in Patients Receiving Intravitreal Anti-Vascular Endothelial Growth Factor

Starr, Matthew R; Dalvin, Lauren A; AbouChehade, Jackson E; Damento, Gena M; Garcia, Maria D; Shah, Saumya M; Hodge, David O; Meissner, Irene; Iezzi, Raymond; Bakri, Sophie J
BACKGROUND AND OBJECTIVE:The purpose of this study was to identify the differences in the types of strokes seen in patients receiving intravitreal anti-vascular endothelial growth factor (VEGF) compared with normal control populations. PATIENTS AND METHODS:We performed a retrospective consecutive review of all patients receiving intravitreal anti-VEGF injections in Olmsted County, Minnesota, from January 1, 2004, to December 31, 2013, for exudative age-related macular degeneration (AMD), diabetic macular edema (DME), proliferative diabetic retinopathy (PDR), or retinal vein occlusion (RVO). A 2-year follow-up period was required for study inclusion. Three age- and sex-matched cohorts were identified. RESULTS:A total of 2,541 patients were examined. There were 690 patients identified during the study period as receiving an intravitreal injection for AMD, DME, PDR, or RVO. Of these patients, 38 (5.8%) suffered a stroke after starting intravitreal injection therapy. Of these strokes, 27 (71.1%) were ischemic, six (15.8%) were embolic, and five (13.2%) were hemorrhagic. There were no differences in the types of strokes identified among the patients receiving intravitreal injections between the case cohort and the control cohorts (P > .05 for all). CONCLUSION:The authors' data suggest there is no predilection to the development of ischemic infarcts or hemorrhagic strokes in those patients receiving intravitreal anti-VEGF compared with control populations. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e140-e157.].
PMID: 31100168
ISSN: 2325-8179
CID: 4953832

Retinal pigment epithelium changes in Kartagener syndrome

Garcia, Maria D; Ventura, Camila V; Dias, João R; Chang, Ta Chen P; Berrocal, Audina M
Purpose/UNASSIGNED:We present the first case in the literature of a patient with Kartagener syndrome and ocular findings of nonexudative age-related macular degeneration. Observations/UNASSIGNED:A 55-year-old woman with Kartagener syndrome and chronic angle closure glaucoma presented for evaluation of the retina. Optos ultra-widefield imaging of the fundus showed glaucomatous cupping, drusen, and retinal pigment epithelium changes within the macular region. Humphrey visual field testing confirmed glaucomatous changes. Drusenoid pigment epithelial detachments were observed bilaterally with optical coherence tomography. Conclusions and importance/UNASSIGNED:We hypothesize that in addition to the lungs, spermatozoa and the Fallopian tubes, the retinal pigment epithelium may also be affected by ciliary dysfunction in individuals with Kartagener syndrome. Given recent advances in our knowledge of retinal ciliopathies, further studies are needed to understand how ciliary dysfunction affects the retina in Kartagener syndrome.
PMID: 29511746
ISSN: 2451-9936
CID: 4953822

Ocular features of multiple system atrophy

Garcia, Maria D; Pulido, Jose S; Coon, Elizabeth A; Chen, John J
The aim of this paper is to gain better understanding of the ocular manifestations of multiple system atrophy (MSA), a neurodegenerative disorder rarely studied in terms of its ophthalmologic features. We performed a retrospective case series (1/1/05-12/31/14) to search for patients seen at Mayo Clinic, Rochester, MN, who had mention of MSA in the medical record and an eye examination, which yielded 285 cases. Of the 285, we identified 39 cases of true MSA. Each of these 39 patients was further reviewed for ocular abnormalities potentially related to MSA. Ocular findings potentially attributable to MSA were found in 64% of patients. Most common were dry eye (N = 14), conjugate eye movement abnormalities (N = 13), and ocular misalignment (N = 7). One patient had dry eye and monocular diplopia from trichiasis due to cicatricial pemphigoid, one had bilateral optic atrophy, and one had Adie's tonic pupil. Conjugate eye movement abnormalities (33%) and ocular misalignment (18%) were more common in patients with MSA-C. Patients with ocular findings, excluding dry eye, had a significantly shorter lifespan from time of initial neurologic symptoms to death. Our study confirms conjugate eye movement abnormalities and misalignment are common ocular findings in patients with MSA. Bilateral optic atrophy and cicatricial pemphigoid are possibly attributable to the disease. Ocular manifestations in MSA predict a poor prognosis as these patients have a significantly shorter lifespan. Therefore, we recommend patients with MSA have a comprehensive neuro-ophthalmologic exam at time of diagnosis, and thereafter, to screen for eye findings that may indicate a shorter lifespan.
PMID: 29066238
ISSN: 1532-2653
CID: 4953802

FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion [Case Report]

Garcia, Maria D; Ventura, Camila V; Berrocal, Audina M
A 7-year-old boy was diagnosed and treated for familial exudative vitreoretinopathy. Genetic testing revealed a 16p13.11 microdeletion and unbalanced translocation causing 11q deletion syndrome. This is the first report describing retinal findings associated with this combination of genetic alterations. Patients with 11q deletion syndrome or 16p13 microdeletions should undergo ophthalmologic examination. [J Pediatr Ophthalmol Strabismus. 2017;54:e71-e74.].
PMID: 29156058
ISSN: 1938-2405
CID: 4953812

Necrotizing Subconjunctival Granulomata and Intraoperative Use of Topical GenTeal Gel

Dalvin, Lauren A; Garcia, Maria D; Salomão, Diva R; Iezzi, Raymond; Barkmeier, Andrew J
PMID: 27324684
ISSN: 1549-4713
CID: 4953792

Histopathologic Findings in the Areas of Orange Pigment Overlying Choroidal Melanomas

Garcia, Maria D; Salomao, Diva R; Marmorstein, Alan D; Pulido, Jose S
PURPOSE/OBJECTIVE:Orange pigment is an important sign of malignancy in melanocytic tumors. There is a question as to whether the pigment accumulation is inside of macrophages or retinal pigment epithelial (RPE) cells. We investigated which cells are involved with this color alteration. METHODS:We examined enucleated specimens from two patients with choroidal melanoma and dense orange pigment on fundus examination. Color fundus and fundus autofluorescence (FAF) photographs were reviewed followed by examination with fluorescent microscopy, electron microscopy, and immunohistochemistry of enucleated eyes for the specific areas corresponding to the orange pigment. RESULTS:Orange pigment was observed on color fundus photography and correlated with areas of hyperautofluorescence on FAF. Fluorescent microscopy of sections of the enucleated eyes showed autofluorescence in the RPE, which were most pronounced where there was a localized retinal detachment and reactive hyperplasia of the RPE. Immunohistochemical studies were done with keratin (OSCAR and AE1/AE3) and S-100 stained RPE cells, which still were attached to Bruch's membrane. Histiocytes present in the detached retina stained with anti-CD163 antibody and did not show autofluorescence. Electron microscopy studies of the same areas showed the presence of lipofuscin and melanolipofuscin within the clustered RPE cells. CONCLUSIONS:Orange pigment in choroidal melanocytic lesions originates from the RPE cells, rather than macrophages, and is most abundant where there is proliferation of the RPE. TRANSLATIONAL RELEVANCE/UNASSIGNED:The orange pigment tumoral biomarker arises and is in the retinal pigment epithelium.
PMID: 27190699
ISSN: 2164-2591
CID: 4953782