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1.
Endocr Relat Cancer ; 23(12): 899-908, 2016 12.
Article in English | MEDLINE | ID: mdl-27679736

ABSTRACT

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11-46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8-38) and SOMs at 29 years (range 22-38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel-Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.


Subject(s)
Adrenal Gland Neoplasms/pathology , Neoplasms, Multiple Primary/pathology , Pancreatic Neoplasms/pathology , Paraganglioma/pathology , Polycythemia/pathology , Somatostatinoma/pathology , Adolescent , Adrenal Gland Neoplasms/complications , Adrenal Gland Neoplasms/diagnosis , Adrenal Gland Neoplasms/therapy , Adult , Child , Cohort Studies , Disease Progression , Female , Humans , Male , Middle Aged , Neoplasms, Multiple Primary/complications , Neoplasms, Multiple Primary/diagnosis , Neoplasms, Multiple Primary/therapy , Pancreatic Neoplasms/complications , Pancreatic Neoplasms/diagnosis , Pancreatic Neoplasms/therapy , Paraganglioma/complications , Paraganglioma/diagnosis , Paraganglioma/therapy , Polycythemia/complications , Polycythemia/diagnosis , Polycythemia/therapy , Retrospective Studies , Somatostatinoma/complications , Somatostatinoma/diagnosis , Somatostatinoma/therapy , Syndrome , Young Adult
2.
Retin Cases Brief Rep ; 5(4): 284-6, 2011.
Article in English | MEDLINE | ID: mdl-25390414

ABSTRACT

PURPOSE: The purpose of this study was to report a case of Vogt-Koyanagi-Harada disease causing large tears of the retinal pigment epithelium (RPE). METHODS: Case report and literature review. RESULTS: A 41-year-old woman presented with headache, tinnitus, and bilateral panuveitis with multiple serous retinal detachments. She was started on oral prednisone, and the inflammation and serous detachments subsided. However, 2 weeks later, she developed large RPE tears. CONCLUSION: Vogt-Koyanagi-Harada disease is an inflammatory disorder of the choroid; however, irregularities in the RPE have been noted, most recently with the use of spectral domain ophthalmic coherence tomography. The finding of RPE tear with resolution of serous retinal detachment may further implicate involvement of the RPE in the disease process.

3.
Ann Fam Med ; 6(5): 428-34, 2008.
Article in English | MEDLINE | ID: mdl-18779547

ABSTRACT

PURPOSE: Diabetic patients with limited access to ophthalmologists have low screening rates for diabetic retinopathy. We evaluated a diabetic retinopathy screening program in a community health center using single images taken with a nonmydriatic retinal camera and primary care clinicians trained to read retinal images. METHODS: This study was conducted from 2001 to 2004 in a multisite community health center staffed by family physicians, advanced practice nurses, and physician's assistants. The clinic serves a primarily low-income, Hispanic population. Clinic clinicians were trained to read the retinal photographs. All images were overread by an ophthalmologist. Patients were referred to eye care specialists for severe diabetic retinopathy, unknown or other abnormality, or inadequate photographs. We analyzed agreement between the clinicians and the ophthalmologist in recognizing diabetic retinopathy and in determining which patients needed referral. We also analyzed overall screening rates based on clinic access to the camera. RESULTS: One thousand forty diabetic patients were screened for diabetic retinopathy at the health center. One hundred thirteen (10.9%) were found to have diabetic retinopathy, 46 severe enough to warrant referral to an ophthalmologist. The clinicians failed to refer 35 (10.2%) of the 344 patients the ophthalmologist believed needed referral. Most cases of missed referral were due to failure to recognize an inadequate photograph or for abnormalities other than diabetic retinopathy. Screening rates were better in the clinic with a permanent camera. CONCLUSIONS: Primary care clinicians trained to read single images from a retinal camera have acceptable accuracy in screening for diabetic retinopathy. Further training may be necessary to recognize other common abnormalities.


Subject(s)
Diabetic Retinopathy/diagnosis , Primary Health Care/methods , Adult , Community Health Centers , Diabetic Retinopathy/complications , Humans , Mass Screening/methods , Photography/methods , Poverty Areas , Sensitivity and Specificity
4.
Ophthalmic Surg Lasers Imaging ; 39(4): 331-4, 2008.
Article in English | MEDLINE | ID: mdl-18717442

ABSTRACT

Burkitt lymphoma is a rapidly growing, high-grade non-Hodgkin lymphoma occurring in three distinct clinical subtypes: endemic, sporadic, and human immunodeficiency associated. The sporadic subtype typically presents as an abdominal mass. Orbital involvement has rarely been reported. The authors report a case of Burkitt lymphoma presenting as rapidly progressive proptosis and loss of vision. Given the tumor's rapid growth rate, potential for vision loss, and good response to chemotherapy, clinicians should be aware of this rare presentation.


Subject(s)
Blindness/diagnosis , Burkitt Lymphoma/diagnostic imaging , Exophthalmos/diagnosis , Orbital Neoplasms/diagnostic imaging , Adolescent , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Blindness/etiology , Burkitt Lymphoma/drug therapy , Burkitt Lymphoma/pathology , Cyclophosphamide/administration & dosage , Doxorubicin/administration & dosage , Etoposide/administration & dosage , Exophthalmos/etiology , Humans , Male , Methotrexate/administration & dosage , Orbital Neoplasms/drug therapy , Orbital Neoplasms/pathology , Tomography, X-Ray Computed , Visual Acuity
5.
Ophthalmology ; 113(6): 1010-3, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16751040

ABSTRACT

PURPOSE: To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females. DESIGN: Retrospective case series. PARTICIPANTS: Patients with genetically proven Danon disease. METHODS: Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography. RESULTS: Five females (4 affected) and 2 affected males were examined. The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium. CONCLUSION: We report the first description of a characteristic retinopathy in patients with Danon disease and the first extracardiac manifestations in affected females. Retinopathy potentially could be used to identify asymptomatic carriers.


Subject(s)
Cataract/etiology , Glycogen Storage Disease Type IIb/complications , Myopia/etiology , Retinitis Pigmentosa/etiology , Cataract/diagnosis , Cataract/genetics , Electroretinography , Female , Fluorescein Angiography , Frameshift Mutation , Glycogen Storage Disease Type IIb/diagnosis , Glycogen Storage Disease Type IIb/genetics , Humans , Lysosomal-Associated Membrane Protein 2 , Lysosomal Membrane Proteins/genetics , Male , Myopia/diagnosis , Myopia/genetics , Pigment Epithelium of Eye/pathology , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/genetics , Retrospective Studies , Visual Fields
6.
Curr Opin Ophthalmol ; 15(6): 519-30, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15523198

ABSTRACT

PURPOSE OF REVIEW: The goal of this review is to describe the more commonly used imaging techniques and their use to identify causes of vision loss, extent of disease, and distinctive patterns associated with various causes of posterior uveitis. RECENT FINDINGS: Distinctive patterns seen with new imaging techniques and applications are being described. Ophthalmic CT, fluorescein angiography, indocyanine green angiography, and others are demonstrating inflammation and pathology in posterior uveitis. As our experience grows with these modalities, they are being used increasingly in the diagnosis and management of patients with posterior uveitis. SUMMARY: This review familiarizes the ophthalmologist with imaging in patients with inflammatory disorders of the retina and choroid. These modalities can help with the diagnosis, treatment, and monitoring of patients with uveitis.


Subject(s)
Diagnostic Imaging , Uveitis, Posterior/diagnosis , Angiography , Coloring Agents , Fluorescein Angiography , Fundus Oculi , Humans , Organic Chemicals , Photography , Tomography, Optical Coherence , Ultrasonography , Uveitis, Posterior/complications , Vision Disorders/etiology
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