ABSTRACT
PURPOSE: To report a case of Best disease presenting as a giant serous pigment epithelial detachment and misdiagnosed as central serous chorioretinopathy. METHODS: Clinical examination and multimodal imaging, including color fundus photography, fluorescein angiography, fundus autofluorescence, and spectral domain optical coherence tomography are presented, as well as the results of electrooculography. RESULTS: A 54-year-old Asian man underwent photodynamic therapy for a large serous pigment epithelial detachment presumed to be due to central serous chorioretinopathy. When the lesion was recalcitrant to therapy, further investigation revealed severely decreased Arden ratios consistent with Best disease. CONCLUSION: There is a wide spectrum in the clinical presentation of Best disease. Diagnostic uncertainty can be elucidated with fundus autofluorescence, spectral domain optical coherence tomography imaging, electrooculography, and genetic testing.
Subject(s)
Central Serous Chorioretinopathy/etiology , Retinal Detachment/etiology , Vitelliform Macular Dystrophy/complications , Central Serous Chorioretinopathy/diagnosis , Diagnosis, Differential , Humans , Male , Middle Aged , Retinal Detachment/diagnosis , Vitelliform Macular Dystrophy/diagnosisABSTRACT
The authors studied the clinical features, visual field, and spectral-domain optical coherence tomography (SD-OCT) characteristics of peripapillary melanocytoma associated with visual field defects in two eyes of two patients. Both eyes had hyperreflective anterior surface and posterior optical shadowing in the region of peripapillary melanocytoma on SD-OCT imaging. The retinal nerve fiber layer was thin adjacent to these lesions, and this corresponded to the opposite hemifield defect on Humphrey Visual Field testing. Three-dimensional imaging of the melanocytoma revealed an irregular elevation in the peripapillary region. SD-OCT, when used in conjunction with clinical examination and Humphrey Visual Field testing, provided useful information that may assist clinicians in treating patients with peripapillary melanocytoma, particularly when observing them over time.
Subject(s)
Nevus, Pigmented/complications , Optic Disk , Optic Nerve Neoplasms/complications , Vision Disorders/etiology , Visual Fields , Aged , Female , Humans , Imaging, Three-Dimensional , Male , Nerve Fibers/pathology , Nevus, Pigmented/diagnosis , Optic Nerve Neoplasms/diagnosis , Retina/pathology , Tomography, Optical Coherence/methods , Vision Disorders/diagnosis , Visual Field TestsABSTRACT
Epithelioid angiosarcomas are extremely rare tumors associated with poor prognosis and early metastases. Its epithelioid cytomorphology and limited vasoformation make it difficult to distinguish from more common malignancies, such as, carcinoma. This can be a potential diagnostic pitfall for the cytopathologist. In this report, the patient is a 24-year-old man presenting with testicular pain, a pelvic mass, and innumerable liver nodules. Immediate interpretation of the needle core biopsies of the pelvic mass and liver lesions initially favored a poorly differentiated adenocarcinoma. Unusual positive immunohistochemical stains for CD30 and CK7 ultimately led the investigation toward a tumor of mesenchymal origin. Further, immunohistochemical evaluation demonstrated positive CD31 and Factor VIII staining and established the final diagnosis of epithelioid angiosarcoma. The tumor cells were negative for CD34, CK20, alpha-fetoprotein, placental-like alkaline phosphatase, hepatocyte paraffin 1, polyclonal carcinoembryonic antigen, CD10, CA-125, prostate-specific antigen, and prostatic acid phosphatase. This case is reported to illustrate the importance of considering the diagnosis of epithelioid angiosarcoma when encountering an "epithelioid" neoplasm particularly with unusual immunoreactivity for CK7 and CD30.
