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VITREOUS HEMORRHAGE IN TYPE 3 GAUCHER DISEASE: AN ANGIOGRAPHIC AND PATHOLOGIC ANALYSIS.
Hua, Hong-Uyen; Haghighi, Arezu; Shillingford, Nick; Lee, Thomas C; Nagiel, Aaron.
Afiliação
  • Hua HU; Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, California.
  • Haghighi A; Department of Ophthalmology, Roski Eye Institute, University of Southern California, Los Angeles, California.
  • Shillingford N; Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, California.
  • Lee TC; Department of Ophthalmology, Roski Eye Institute, University of Southern California, Los Angeles, California.
  • Nagiel A; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Retin Cases Brief Rep ; 16(4): 414-418, 2022 Jul 01.
Article em En | MEDLINE | ID: mdl-33017378
PURPOSE: To describe the case of a 12-year-old woman with vitreoretinal manifestations of Type 3 Gaucher disease. METHODS: A retrospective case report including multimodal imaging and histologic examination of the vitreous. RESULTS: A 12-year-old woman with a history of Gaucher disease Type 3 was referred to the ophthalmology service for evaluation of vitreous deposits in both eyes. Funduscopic examination was notable for white vitreous opacities in both eyes. Ultra-widefield fluorescein angiography demonstrated areas of blockage associated with the deposits and focal areas of leakage. Optical coherence tomography angiography showed shadow artifact without intrinsic flow at these sites. Three years after presentation, she developed a right hemorrhagic posterior vitreous detachment, requiring pars plana vitrectomy with scleral buckle. A vitreous sample was sent to pathology, which demonstrated Gaucher cells. CONCLUSION: Gaucher disease is a rare metabolic condition caused by an autosomal recessive deficiency of glucocerebrosidase. To the best of our knowledge, this is the first report of hemorrhagic posterior vitreous detachment in Type 3 Gaucher disease, including ultra-widefield imaging, optical coherence tomography angiography, and histopathology.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Descolamento do Vítreo / Doença de Gaucher Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Revista: Retin Cases Brief Rep Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Descolamento do Vítreo / Doença de Gaucher Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Revista: Retin Cases Brief Rep Ano de publicação: 2022 Tipo de documento: Article