Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 23-year-old woman who presented with blurred vision in her right eye from increasing astigmatism had a vascular ciliary body tumour. After slow growth was documented over a 15-month period the tumour was excised with an iridocyclectomy. Microscopically the tumour consisted of sheets of large polygonal cells with round nuclei and foamy cytoplasm, separated by numerous capillaries, findings consistent with a diagnosis of a haemangioblastoma. Haemangioblastomas occur in the retina in von Hippel's disease and this occurrence in the ciliary body is a rare event. Investigation of the patient with a CT of the head and an abdominal ultrasound revealed no systemic lesions suggestive of systemic angiomatosis or von Hippel-Lindau disease.
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PMID:An unusual ciliary body tumour: a haemangioblastoma. 195 60

The aim of this study was to evaluate a patient with von Hippel-Lindau (VHL) syndrome and to discuss the clinical manifestations. A 25-year-old woman presented to our clinic with blurred vision for 2 months. Best corrected visual acuity in right eye was 20/50, and fundoscopic examination revealed juxtapapillary endophytic retinal capillary hemangioma. Examination findings on left eye were normal. On optical coherence tomography, exudation was prominent on macula. History revealed cerebellar operation because of cerebellar hemangioblastoma. On abdominal ultrasonography, liver hemangiomas and pancreatic cysts were seen, confirmed by abdominal computerized tomography (CT). Abdominal CT imaging also revealed nutcracker phenomenon. Transthoracic echocardiography showed atrial septal aneurysm without shunt. The patient refused ocular treatment. At 3-month control, ophthalmic findings were the same. To our knowledge, this is the first case of VHL disease reported to be associated with nutcracker phenomenon and atrial septal aneurysm. Systemic evaluation and regular follow-up should be recommended to subjects with VHL disease.
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PMID:A case of von Hippel-Lindau disease with juxtapapillary retinal capillary hemangioma and nutcracker phenomenon. 2311 31

Blepharoptosis is the drooping or inferior displacement of the upper eyelid. Blepharoptosis can be either congenital or acquired. Tumour metastasis is one of the acquired causes of blepharoptosis. The lungs, locoregional lymph nodes, bone and liver are the usual sites of metastases of renal cell carcinoma (RCC); however, unusual locations of RCC have also been reported. Herein, we describe a case of a 47-year-old man with unilateral ptosis and blurred vision due to metastatic RCC. We describe the different causes of blepharopstosis, the path that led to the diagnosis, and how RCC can metastasize to unusual anatomical regions such as the orbit. Symptoms such as exophthalmos, lid edema, diplopia, ptosis, cranial nerve paralysis or blurred vision may mime a benign disease; however, they could also be the symptoms of a systemic malignancy.
J Kidney Cancer VHL 2016
PMID:Unilateral Blepharoptosis from Renal Cell Carcinoma. 2832 82