1/18. Agenesis of the corpus callosum in a child with Leber's congenital amaurosis.A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions), attenuation of the retinal arterioles, and very fine pigment dusting in the peripheral retina. Photopic and scotopic ERG were extinguished. Even though this is an exceedingly rare association, these findings along with neurological symptoms should alert the physician to conduct prompt cranial imaging.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/18. mucormycosis manifesting as proptosis and unilateral blindness.A 51-year-old woman presented to the emergency department (ED) of another institution with sudden onset of blindness in the left eye. The patient was found to have no light perception in the left eye and a marked chemosis occurring several days after a fall. She was transferred to the hospital for ophthalmologic evaluation. Upon careful history and physical examination, the diagnosis of rhinocerebral mucormycosis was considered and urgent ophthalmology and otolaryngology consults were obtained. The patient underwent extensive surgical debridement and pharmacologic treatment. The diagnosis was confirmed by pathological specimens. In this case report, the clinical presentation, pathogenesis, diagnostic workup, and ED management of mucormycosis are discussed, highlighting the possible diagnostic and therapeutic pitfalls that are most pertinent to the emergency physician.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/18. Sudden painless unilateral vision loss caused by branch retinal artery occlusion: implications for the primary care physician.We report a case of sudden onset visual loss caused by branch retinal artery occlusion. Systematic search for the cause of branch retinal artery occlusion revealed factor v Leiden mutation and antiphospholipid antibody syndrome as the cause. Implications for diagnosis and management are discussed.- - - - - - - - - - ranking = 4keywords = physician (Clic here for more details about this article) |
4/18. Heeding clues to giant cell arteritis. Prompt response can prevent vision loss.To return to the case vignette, the new onset of headache in a 74-year-old woman with anemia and a markedly elevated ESR should alert the physician to the strong possibility of giant cell arteritis. Vision loss is the most significant potential early complication. Temporal artery biopsy is indicated, and treatment with corticosteroids should be started immediately. Close monitoring of the patient's symptoms and laboratory parameters is critical, as is surveillance for potential late complications.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/18. Extrascleral malignant melanoma.We present two cases of anterior extrascleral extension of malignant melanoma in eyes previously blind from other causes. In both cases, the tumor was not detected by the physician but rather by the patient himself (case 1) or his wife (case 2). In one case, the tumor became manifest more than 60 years after the eye became blind from trauma. Although blind eyes may harbor lethal tumors and, therefore, need regular examinations, this simple part of the physical examination frequently remains neglected by ophthalmologists as well as by primary care physicians. We wish to emphasize the potential life-saving importance of regular examinations of blind eyes.- - - - - - - - - - ranking = 2keywords = physician (Clic here for more details about this article) |
6/18. Ocular complications of hypovitaminosis a after bariatric surgery.PURPOSE: To report the ocular complications of xerophthalmia, nyctalopia, and visual deterioration to legal blindness as a result of inadequate vitamin A supplementation after malabsorptive bariatric surgery. DESIGN: Observational case report and literature review. PARTICIPANT: A 39-year-old woman with xerophthalmia and nyctalopia occurring 3 years after gastric bypass surgery. RESULTS: We report a patient with a rare finding of xerophthalmia and visual deterioration after gastric bypass surgery as a result of vitamin a deficiency. The patient was referred for decreased vision associated with chronic dry eyes, bilateral diffuse punctate keratitis, and corneal scarring of unknown cause after several ophthalmologic examinations. The medical history, ophthalmic findings, and clinical course are discussed. CONCLUSIONS: gastric bypass procedures can cause vitamin a deficiency leading to serious ocular complications, including xerophthalmia, nyctalopia, and ultimate blindness. The increasing incidence of obesity and gastric bypass procedures warrants patient and physician education regarding strict adherence to vitamin supplementation. education is imperative to avoid detrimental ophthalmic complications resulting from hypovitaminosis A and to prevent a potential epidemic of iatrogenic xerophthalmia and blindness.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/18. Visual loss due to central serous chorioretinopathy during corticosteroid treatment for giant cell arteritis.giant cell arteritis (GCA) can be a devastating disease resulting in blindness if not promptly diagnosed and treated. The only proven treatment for GCA is systemic corticosteroids; however, there are many side-effects associated with this therapy including ocular side-effects such as ocular hypertension, cataract formation and central serous chorioretinopathy. To raise physician awareness, a patient with biopsy-proven GCA is reported who lost vision during corticosteroid therapy because of central serous chorioretinopathy.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
8/18. pituitary apoplexy goes to the bar: litigation for delayed diagnosis, deficient vision, and death.Over the past 15 years, I have reviewed the records of six patients whose physicians were alleged to have failed to diagnose a pituitary tumor before it bled ("apoplexy") or failed to recognize apoplexy after it had occurred. These cases were referred by attorneys involved in lawsuits alleging medical negligence. Their histories are summarized here from available clinical records, depositions, and other legal documents. None of these cases is still in litigation. The purpose of this commentary is to show how such legal case material is useful in alerting the medical community to pitfalls in diagnosis.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
9/18. Multifocal choroiditis in disseminated cryptococcus neoformans infection.PURPOSE: To report an uncommon case of multifocal choroiditis as the result of disseminated cryptococcus neoformans infection in a patient who is hiv-positive. DESIGN: Interventional case report. methods: A 27-year-old hiv-positive woman with fever, headache, and vomiting was examined. Lumbar puncture was performed and revealed C neoformans infection. Her condition evolved with sudden bilateral blindness and deafness. Ophthalmologic examination revealed multiple yellowish choroidal lesions in the posterior pole of both eyes. RESULTS: Postmortem examination showed disseminated C neoformans infection. Histologic examination of the eyes confirmed the presence of C neoformans in the choroiditis. CONCLUSION: Multifocal choroiditis in C neoformans infection is a rare ophthalmic manifestation. The recognition of this condition by ophthalmologists can help physicians to diagnose a disseminated and fatal disease.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
10/18. Ocular manifestations of von hippel-lindau disease: clinical and genetic investigations.PURPOSE: To describe the clinical spectrum of lesions involving the visual system in von Hippel-Lindau (VHL) disease, the genetic alterations, and the molecular genetic properties of retinal hemangioblastomas. methods: In this prospective case-series, 406 patients with VHL disease had systemic and ocular evaluations. Genetic mutations within six pathological specimens were evaluated, using microdissection and polymerase chain reaction amplification. RESULTS: Half of the 406 patients (199 families) with VHL disease had ocular involvement. visual acuity was 20/20 or better in 170 patients (84.5%) with hemangioblastomas; six (3%) were legally blind. Thirty-three (8.2%) had unilateral enucleations. Genetic mutations were detected in all VHL patients. The patients with complete deletion were less likely to have ocular VHL compared with those patients with partial deletion, missense, and nonsense mutation (9% versus 45%) (P < .0001), suggesting the importance of the gene or areas of genes on chromosome 3 for the development of retinal hemangioblastomas. The molecular genetic assessments of the pathology specimens showed that the foamy "stromal" cells were affected with the genetic mutations. There is an up-regulation of vascular endothelial growth factor, which was expressed in the ocular lesions. CONCLUSIONS: In this series, the largest of its kind, patients with ocular lesions of VHL disease are referred mostly from physicians. The systemic genetic mutation evaluations suggest that a certain gene or groups of genes in chromosome 3p are crucial for both the development and maintenance of the retinal tumor. This is the first series to find a difference between the phenotype and genotype.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
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