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1. Ricketts C, Zeegers MP, Lubinski J, Maher ER: Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma. PLoS One; 2009 Jun 24;4(6):e6037
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  • We observed that variants of MMP1 and MMP3 were significant modifiers of RCC risk (and risks of retinal angioma and cerebellar haemangioblastoma) in VHL disease patients.

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  • (PMID = 19551141.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] ENG
  • [Grant] United Kingdom / Cancer Research UK / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / CDH1 protein, human; 0 / Cadherins; 0 / IGFBP3 protein, human; 0 / Insulin-Like Growth Factor Binding Protein 3; 0 / Insulin-Like Growth Factor Binding Proteins; 0 / Vascular Endothelial Growth Factor A; EC 2.7.11.1 / AURKA protein, human; EC 2.7.11.1 / Aurora Kinase A; EC 2.7.11.1 / Aurora Kinases; EC 2.7.11.1 / Protein-Serine-Threonine Kinases; EC 3.4.24.17 / Matrix Metalloproteinase 3; EC 3.4.24.7 / Matrix Metalloproteinase 1; EC 6.3.2.19 / VHL protein, human; EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
  • [Other-IDs] NLM/ PMC2696041
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2. Chen YC, Li CY, Chen SN: Retinal neovascularization and an angioma-like lesion after demarcation photocoagulation for rhegmatogenous retinal detachment. Chang Gung Med J; 2006 Mar-Apr;29(2):212-5
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  • [Title] Retinal neovascularization and an angioma-like lesion after demarcation photocoagulation for rhegmatogenous retinal detachment.
  • Laser photocoagulation might aggravate the ischemia of an area of retinal detachment and predispose the retina to formation of neovascularization and an angioma-like lesion.
  • We present a case of retinal neovascularization (RNV) and an angioma-like lesion occurring after demarcation photocoagulation for rhegmatogenous retinal detachment (RRD).
  • A 20-year-old woman suffered from a retinal atrophic hole with localized shallow retinal detachment in the right eye.
  • Fifteen months later, RNV and an angioma-like lesion had developed in the previously detached retina.
  • Treatment with demarcation photocoagulation for RRD may run a risk of formation of RNV and angioma-like lesion if the retina is not reattached.
  • [MeSH-major] Hemangioma / etiology. Light Coagulation / adverse effects. Retinal Detachment / surgery. Retinal Neoplasms / etiology. Retinal Neovascularization / etiology

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  • (PMID = 16767972.001).
  • [ISSN] 2072-0939
  • [Journal-full-title] Chang Gung medical journal
  • [ISO-abbreviation] Chang Gung Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] China (Republic : 1949- )
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3. Bradley S, Dumas N, Ludman M, Wood L: Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort. Can Urol Assoc J; 2009 Feb;3(1):32-6
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  • Manifestations included cases of RCC (31.6%), central nervous system (CNS) hemangioblastoma (73.7%), retinal hemangioma (47.4%), renal cyst (47.4%) and pheochromocytoma (10.5%).
  • Routine surveillance was being done for the CNS in 62.5% of patients, retina in 47.4%, abdomen in 43.8% and urine catecholamines in only 10.5%.

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  • (PMID = 19293973.001).
  • [ISSN] 1911-6470
  • [Journal-full-title] Canadian Urological Association journal = Journal de l'Association des urologues du Canada
  • [ISO-abbreviation] Can Urol Assoc J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Canada
  • [Other-IDs] NLM/ PMC2645893
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4. Turell ME, Singh AD: Vascular tumors of the retina and choroid: diagnosis and treatment. Middle East Afr J Ophthalmol; 2010 Jul;17(3):191-200

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  • [Title] Vascular tumors of the retina and choroid: diagnosis and treatment.
  • The vascular tumors of the retina and choroid comprise a diverse group of congenital and acquired lesions.
  • The major vascular tumors of the retina include retinal capillary hemangioma, cavernous hemangioma of the retina, retinal vasoproliferative tumor, and racemose hemangiomatosis of the retina or Wyburn-Mason syndrome.
  • Choroidal vascular tumors include circumscribed choroidal hemangioma and diffuse choroidal hemangioma.
  • While classified as benign, visual symptoms secondary to exudative retinal detachment and a variety of other mechanisms are common and are a major source of long-term visual disability.
  • Of particular importance, many of the vascular tumors of the retina and choroid have significant associations with systemic disease.
  • As ocular symptoms are often the most common presenting disease manifestation, the ophthalmologist plays an important role in accurate and early diagnosis.
  • In the following article, the key clinical and diagnostic features of the major retinal and choroidal vascular tumors, their systemic associations, and the literature pertaining to the most currently available treatment strategies are reviewed.

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  • (PMID = 20844673.001).
  • [ISSN] 0975-1599
  • [Journal-full-title] Middle East African journal of ophthalmology
  • [ISO-abbreviation] Middle East Afr J Ophthalmol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC2934709
  • [Keywords] NOTNLM ; Cavernous Hemangioma / Choroidal Hemangioma / Retinal Capillary Hemangioma / Retinal Vasoproliferative Tumor / Wyburn–Mason Syndrome
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5. Berta A: [Radiotherapy of intraocular tumors with Ruthenium-106-containing, beta-emitting ophthalmic applicators. Experiences with treatments performed between 1986 and 1999 in Hungary]. Magy Onkol; 2005;49(1):53-7
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  • PATIENTS AND METHODS: The distribution according to diagnosis of the patients irradiated between 1986 and 1999 were: choroidal melanoma 148, retinoblastoma 15, retinal angioma 9, carcinoma metastasis 4, subretinal neovascularization 11.
  • [MeSH-minor] Beta Particles. Carcinoma / radiotherapy. Carcinoma / secondary. Choroid Neoplasms / radiotherapy. Hemangioma / radiotherapy. Humans. Hungary. Melanoma / radiotherapy. Retinal Neoplasms / radiotherapy. Retinoblastoma / radiotherapy. Retrospective Studies. Treatment Outcome

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  • (PMID = 15902335.001).
  • [ISSN] 0025-0244
  • [Journal-full-title] Magyar onkologia
  • [ISO-abbreviation] Magy Onkol
  • [Language] hun
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Hungary
  • [Chemical-registry-number] 0 / Ruthenium Radioisotopes
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6. Hrisomalos FN, Maturi RK, Pata V: Long-term use of intravitreal bevacizumab (avastin) for the treatment of von hippel-lindau associated retinal hemangioblastomas. Open Ophthalmol J; 2010;4:66-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Long-term use of intravitreal bevacizumab (avastin) for the treatment of von hippel-lindau associated retinal hemangioblastomas.
  • Retinal hemangioblastomas are the most common manifestation of Von Hippel-Lindau (VHL) disease [1-3].
  • While peripheral retinal hemangioblastomas may be treated by thermal laser treatment or cryotherapy, optic nerve and macular lesions are more difficult to treat [4, 5].

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  • [Cites] Science. 1993 May 28;260(5112):1317-20 [8493574.001]
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  • (PMID = 21293730.001).
  • [ISSN] 1874-3641
  • [Journal-full-title] The open ophthalmology journal
  • [ISO-abbreviation] Open Ophthalmol J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Other-IDs] NLM/ PMC3032222
  • [Keywords] NOTNLM ; VHL / angioma / avastin / bevacizumab / exudate / long-term. / optic nerve glioma / treatment
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7. von Buelow M, Pape S, Hoerauf H: Systemic bevacizumab treatment of a juxtapapillary retinal haemangioma. Acta Ophthalmol Scand; 2007 Feb;85(1):114-6

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  • [Title] Systemic bevacizumab treatment of a juxtapapillary retinal haemangioma.
  • [MeSH-major] Angiogenesis Inhibitors / therapeutic use. Antibodies, Monoclonal / therapeutic use. Hemangioma, Capillary / drug therapy. Retinal Neoplasms / drug therapy. Vascular Endothelial Growth Factor A / antagonists & inhibitors

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  • (PMID = 17244223.001).
  • [ISSN] 1395-3907
  • [Journal-full-title] Acta ophthalmologica Scandinavica
  • [ISO-abbreviation] Acta Ophthalmol Scand
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Angiogenesis Inhibitors; 0 / Antibodies, Monoclonal; 0 / Antibodies, Monoclonal, Humanized; 0 / VEGFA protein, human; 0 / Vascular Endothelial Growth Factor A; 2S9ZZM9Q9V / Bevacizumab
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8. Tanabe H, Ishida M, Takeuchi S: [Two cases of retinal hemangioma treated by transpupillary thermotherapy]. Nippon Ganka Gakkai Zasshi; 2006 Jul;110(7):525-31
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  • [Title] [Two cases of retinal hemangioma treated by transpupillary thermotherapy].
  • PURPOSE: To evaluate transpupillary thermotherapy(TTT), the treatment was reviewed in two cases of retinal hemangioma which resisted photocoagulation.
  • CASE 1: A 25-year-old man was referred to us for visual impairment in his right eye caused by retinal hemangioma.
  • Ophthalmoscopic examination revealed a hemangioma located in the superotemporal peripheral retina with serous retinal detachment.
  • We performed photocoagulation of the afferent artery and TTT of the hemangioma two times each.
  • The hemangioma regressed and the serous retinal detachment resolved.
  • CASE 2: A 13-year-old girl was referred to us for visual impairment in her right eye caused by retinal hemangioma.
  • Opthalmoscopic examination revealed a hemangioma located in the inferonasal peripheral retina with serous retinal detachment.
  • We performed photocoagulation of the afferent artery two times and TTT of the hemangioma four times.
  • The hemangioma regressed and the serous retinal detachment resolved.
  • TTT could be an effective treatment for retinal hemangioma.
  • [MeSH-major] Hemangioma / therapy. Hyperthermia, Induced / methods. Retinal Neoplasms / therapy

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  • (PMID = 16884073.001).
  • [ISSN] 0029-0203
  • [Journal-full-title] Nippon Ganka Gakkai zasshi
  • [ISO-abbreviation] Nippon Ganka Gakkai Zasshi
  • [Language] jpn
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Japan
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9. Knecht PB, Bosch MM, Helbig H: Fibrotic racemose haemangioma of the retina. Klin Monbl Augenheilkd; 2008 May;225(5):495-6
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  • [Title] Fibrotic racemose haemangioma of the retina.
  • BACKGROUND: The racemose - or arteriovenous - haemangioma of the retina is a rare developmental anomaly.
  • Other than a white tortuous strand in the retina of the right eye, which resembled a filarium at first glance, no pathologies were found.
  • CONCLUSIONS: We show an unusual presentation of a retinal racemose haemangioma.
  • Diagnosis of this entity should prompt further examinations to exclude any additional haemangiomas with respect to the Wyburn-Mason syndrome.
  • [MeSH-major] Hemangioma / diagnosis. Retinal Neoplasms / diagnosis
  • [MeSH-minor] Adult. Female. Fibrosis / diagnosis. Humans

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  • (PMID = 18454409.001).
  • [ISSN] 0023-2165
  • [Journal-full-title] Klinische Monatsblätter für Augenheilkunde
  • [ISO-abbreviation] Klin Monbl Augenheilkd
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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10. Kreusel KM, Bechrakis NE, Neumann HP, Foerster MH: [Juxtapapillary capillary retinal angioma with epiretinal membrane of the macula in familial Von-Hippel-Lindau-Syndrome]. Ophthalmologe; 2007 Apr;104(4):317-20
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  • [Title] [Juxtapapillary capillary retinal angioma with epiretinal membrane of the macula in familial Von-Hippel-Lindau-Syndrome].
  • [Transliterated title] Juxtapapilläres kapilläres retinales Angiom mit epiretinaler Membran der Makula bei familiärem Von-Hippel-Lindau-Syndrom.
  • A case of juxtapapillary capillary retinal angioma associated with a vascularized epiretinal membrane of the macula in a 6-year-old girl is presented.
  • The retinal angioma embedded in an epiretinal membrane was removed completely with the membrane by pars plana vitrectomy with a good functional result.
  • Histopathology confirmed the diagnosis of capillary angioma.
  • [MeSH-major] Epiretinal Membrane / surgery. Hemangioma, Capillary / genetics. Hemangioma, Capillary / surgery. Retinal Neoplasms / genetics. Retinal Neoplasms / surgery. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / surgery

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  • (PMID = 17123050.001).
  • [ISSN] 0941-293X
  • [Journal-full-title] Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
  • [ISO-abbreviation] Ophthalmologe
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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11. Kreusel KM, Bechrakis NE, Neumann HP, Schmidt D, Foerster MH: Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease. Can J Ophthalmol; 2007 Apr;42(2):251-5
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  • [Title] Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease.
  • BACKGROUND: The aim of this study was to evaluate patients with solitary juxtapapillary capillary retinal angioma for the presence of von Hippel-Lindau disease (VHL).
  • METHODS: A retrospective case series of 11 patients, each presenting with a solitary juxtapapillary capillary retinal angioma, was examined.
  • Patients were evaluated for type of angioma, presence of other VHL lesions, and mutations of the VHL gene.
  • RESULTS: Juxtapapillary angioma was exophytic in 7 patients and endophytic in 4 patients.
  • Four patients were affected by VHL-related lesions as distinct from ocular angioma.
  • There was no difference in the age at manifestation or the type of juxtapapillary angioma in VHL patients compared with non-VHL patients.
  • INTERPRETATION: A solitary juxtapapillary angioma may indicate the presence of VHL in a majority of patients, irrespective of the growth pattern of the tumour.
  • Because of the high risk of the presence of other VHL lesions, thorough screening for VHL is mandatory for patients presenting with a solitary juxtapapillary angioma.

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  • (PMID = 17392848.001).
  • [ISSN] 0008-4182
  • [Journal-full-title] Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
  • [ISO-abbreviation] Can. J. Ophthalmol.
  • [Language] ENG
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] EC 6.3.2.19 / VHL protein, human; EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
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12. Rarey K, Friberg TR: Indirect laser treatment and anti-VEGF therapy of a retinal angioma, with resolution of a large serous retinal detachment, macular exudates, and macular edema. Semin Ophthalmol; 2010 Jan-Mar;25(1-2):21-6
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  • [Title] Indirect laser treatment and anti-VEGF therapy of a retinal angioma, with resolution of a large serous retinal detachment, macular exudates, and macular edema.
  • PURPOSE: To report on a novel treatment strategy in an eye with a retinal angioma and macular edema METHODS: Wide-angle angiography was used to characterize the lesion and response to theraphy, while the treatment combined laser photocoagulation with the indirect laser delivery system, and intravitreal injections of pegaptanib and bevacizumab.
  • CONCLUSION: A combination of laser photocoagulation and anti-VEGF theraphy can be effective in the treatment of macular exudation and edema from a retinal angioma.
  • [MeSH-major] Angiogenesis Inhibitors / therapeutic use. Hemangioma / therapy. Laser Coagulation. Macular Edema / therapy. Retinal Detachment / therapy. Retinal Neoplasms / therapy. Vascular Endothelial Growth Factor A / antagonists & inhibitors

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  • (PMID = 20507193.001).
  • [ISSN] 1744-5205
  • [Journal-full-title] Seminars in ophthalmology
  • [ISO-abbreviation] Semin Ophthalmol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Angiogenesis Inhibitors; 0 / Antibodies, Monoclonal; 0 / Antibodies, Monoclonal, Humanized; 0 / Aptamers, Nucleotide; 0 / VEGFA protein, human; 0 / Vascular Endothelial Growth Factor A; 0 / pegaptanib; 2S9ZZM9Q9V / Bevacizumab
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13. Kreusel KM, Bechrakis NE, Neumann HP, Foerster MH: Pars plana vitrectomy for juxtapapillary capillary retinal angioma. Am J Ophthalmol; 2006 Mar;141(3):587-9
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  • [Title] Pars plana vitrectomy for juxtapapillary capillary retinal angioma.
  • PURPOSE: To describe the treatment of juxtapapillary capillary angioma by pars plana vitrectomy (PPV) and tumor excision.
  • METHODS: A 6-year-old girl with symptomatic juxtapapillary capillary retinal angioma with associated epiretinal membrane (ERM) underwent PPV and extraction of the tumor and ERM.
  • Capillary retinal angioma was confirmed by histology of the surgical specimen, and familial VHL was revealed.
  • CONCLUSIONS: PPV and extraction of the tumor is applicable in juxtapapillary capillary retinal angioma with associated ERM.
  • [MeSH-major] Hemangioma, Capillary / surgery. Retinal Neoplasms / surgery. Vitrectomy / methods

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  • (PMID = 16490522.001).
  • [ISSN] 0002-9394
  • [Journal-full-title] American journal of ophthalmology
  • [ISO-abbreviation] Am. J. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] EC 6.3.2.19 / VHL protein, human; EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
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14. Papageorgiou KI, Ghazi-Nouri SM, Andreou PS: Vitreous and subretinal haemorrhage: an unusual complication of retinal racemose haemangioma. Clin Exp Ophthalmol; 2006 Mar;34(2):176-7
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  • [Title] Vitreous and subretinal haemorrhage: an unusual complication of retinal racemose haemangioma.
  • Racemose haemangioma of the retina is a rare, usually unilateral developmental abnormality: an arteriovenous communication with variable alterations in capillary and arteriolar networks.
  • [MeSH-major] Arteriovenous Malformations / complications. Hemangioma / complications. Retinal Artery / abnormalities. Retinal Hemorrhage / etiology. Retinal Neoplasms / complications. Retinal Vein / abnormalities. Vitreous Hemorrhage / etiology

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  • (PMID = 16626437.001).
  • [ISSN] 1442-6404
  • [Journal-full-title] Clinical & experimental ophthalmology
  • [ISO-abbreviation] Clin. Experiment. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Australia
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15. Priesemann M, Davies KM, Perry LA, Drake WM, Chew SL, Monson JP, Savage MO, Johnston LB: Benefits of screening in von Hippel-Lindau disease--comparison of morbidity associated with initial tumours in affected parents and children. Horm Res; 2006;66(1):1-5
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  • Von Hippel-Lindau (VHL) is a rare autosomal dominant syndrome characterised by the association of retinal and CNS haemangioblastomas, phaeochromocytoma and renal cell carcinoma.
  • We report the clinical features in three parent-offspring pairs where the parents have presented clinically with renal cell carcinoma, phaeochromocytoma, cerebellar haemangioblastoma and retinal haemangioma, and the children have undergone pre-symptomatic screening.
  • All children were asymptomatic at the time of diagnosis.
  • [MeSH-major] von Hippel-Lindau Disease / diagnosis. von Hippel-Lindau Disease / genetics
  • [MeSH-minor] Adolescent. Adrenal Gland Neoplasms / diagnosis. Adrenal Gland Neoplasms / genetics. Carcinoma, Renal Cell / diagnosis. Carcinoma, Renal Cell / genetics. Child, Preschool. DNA Mutational Analysis. Female. Humans. Kidney Neoplasms / diagnosis. Kidney Neoplasms / genetics. Magnetic Resonance Imaging. Male. Middle Aged. Morbidity. Pedigree. Pheochromocytoma / diagnosis. Pheochromocytoma / genetics

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  • [Copyright] Copyright 2006 S. Karger AG, Basel.
  • (PMID = 16651847.001).
  • [ISSN] 0301-0163
  • [Journal-full-title] Hormone research
  • [ISO-abbreviation] Horm. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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16. Miyazawa A, Inoue M, Hirakata A, Okada AA, Iihara K, Fujioka Y: Expression of inhibin alpha by stromal cells of retinal angiomas excised from a patient with von Hippel-Lindau disease. Jpn J Ophthalmol; 2009 Sep;53(5):501-5
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  • [Title] Expression of inhibin alpha by stromal cells of retinal angiomas excised from a patient with von Hippel-Lindau disease.
  • BACKGROUND: To report the results of immunohistochemical analyses of a retinal angioma obtained from a patient with von Hippel-Lindau (VHL) disease.
  • CASE: A 13-year-old girl with VHL disease presented with bilateral retinal angiomas and decreased vision in the right eye.
  • Although transpupillary thermotherapy was performed to treat the angiomas, the tractional and exudative retinal detachment progressed OD, requiring vitreous surgery.
  • Intraoperatively, a large retinal angioma was excised together with the surrounding retina to aid in reattaching the retina.
  • OBSERVATIONS: Histological examination showed that the excised tissue was made up of highly vascularized cells, and the retina was gliotic.
  • CONCLUSIONS: The results indicate that stromal cells in retinal angiomas are neuroectodermal in origin with immunohistochemical features, for example, inhibin alpha, similar to cerebellar hemangioblastomas and renal cell carcinomas associated with VHL disease.
  • [MeSH-major] Hemangioma / metabolism. Inhibins / metabolism. Retinal Neoplasms / metabolism. von Hippel-Lindau Disease / metabolism

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  • (PMID = 19847606.001).
  • [ISSN] 1613-2246
  • [Journal-full-title] Japanese journal of ophthalmology
  • [ISO-abbreviation] Jpn. J. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Glial Fibrillary Acidic Protein; 0 / VEGFA protein, human; 0 / Vascular Endothelial Growth Factor A; 0 / inhibin-alpha subunit; 11096-26-7 / Erythropoietin; 57285-09-3 / Inhibins; EC 4.2.1.11 / Phosphopyruvate Hydratase
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17. Sheth MN, Nations SP, Wolfe GI, Trivedi JR: Von hippel-lindau disease associated with thymoma and myasthenia gravis. J Clin Neuromuscul Dis; 2005 Dec;7(2):59-61
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  • Von Hippel-Lindau (VHL) disease is an autosomal-dominant disorder characterized by central nervous system hemangioblastomas, retinal angioma, and renal cell carcinoma.

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  • (PMID = 19078784.001).
  • [ISSN] 1537-1611
  • [Journal-full-title] Journal of clinical neuromuscular disease
  • [ISO-abbreviation] J Clin Neuromuscul Dis
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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18. Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Haghpanah V, Hejazi M, Soltani A, Larijani B: Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease. Fam Cancer; 2009;8(4):465-71
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  • It was detected in a family with bilateral malignant pheochromocytoma who has been followed for at least 9 years as RET negative isolated familial pheochromocytoma, finally diagnosed as von Hipple-Lindau disease according to retinal angioma and VHL gene mutation.
  • VHL type 2 presenting with both pheochromocytoma and retinal angioma in this family found to be associated with the new missense mutation (c499 C>T) of VHL gene.
  • [MeSH-minor] Adolescent. Adult. Amino Acid Sequence. Base Sequence. DNA Mutational Analysis. Female. Hemangioma / genetics. Humans. Male. Models, Molecular. Molecular Sequence Data. Mutation, Missense. Pedigree. Polymerase Chain Reaction. Polymorphism, Single Nucleotide. Protein Structure, Quaternary. Proto-Oncogene Proteins c-ret / genetics. Retinal Neoplasms / genetics. Young Adult

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  • (PMID = 19649731.001).
  • [ISSN] 1573-7292
  • [Journal-full-title] Familial cancer
  • [ISO-abbreviation] Fam. Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] EC 2.7.10.1 / Proto-Oncogene Proteins c-ret; EC 2.7.10.1 / RET protein, human; EC 6.3.2.19 / VHL protein, human; EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
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19. Singh AD, Rundle PA, Rennie I: Retinal vascular tumors. Ophthalmol Clin North Am; 2005 Mar;18(1):167-76, x

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Retinal vascular tumors.
  • Retinal vascular tumors can be classified into four distinct clinical entities, which include retinal capillary hemangioma, retinal cavernous hemangioma, retinal arteriovenous communications (Wyburn-Mason syndrome), and retinal vasoproliferative tumor.
  • [MeSH-major] Hemangioma, Capillary / pathology. Hemangioma, Cavernous / pathology. Retinal Neoplasms / pathology
  • [MeSH-minor] Arteriovenous Malformations / diagnosis. Diagnosis, Differential. Fluorescein Angiography. Humans. Prognosis. Retinal Diseases / diagnosis. Retinal Vessels / abnormalities. Syndrome. Tomography, X-Ray Computed

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  • (PMID = 15763202.001).
  • [ISSN] 0896-1549
  • [Journal-full-title] Ophthalmology clinics of North America
  • [ISO-abbreviation] Ophthalmol Clin North Am
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 69
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20. Pettman RK, Crowley A, Riddell C, Ludman MD: VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study. Mol Diagn Ther; 2006;10(4):239-42
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  • BACKGROUND: von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which affected individuals may develop CNS and retinal hemangioblastomas, pheochromocytomas, renal cell carcinoma, and cysts of various organs.
  • RESULTS: Sequence analysis identified the VHL P25L variant in 7 of 14 family members, one of whom had a single retinal hemangioma, which is in itself insufficient to diagnose VHL disease.

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  • (PMID = 16884327.001).
  • [ISSN] 1177-1062
  • [Journal-full-title] Molecular diagnosis & therapy
  • [ISO-abbreviation] Mol Diagn Ther
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] New Zealand
  • [Chemical-registry-number] 9DLQ4CIU6V / Proline; EC 6.3.2.19 / VHL protein, human; EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein; K3Z4F929H6 / Lysine
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21. Grant LW, Anderson C, Macklis RM, Singh AD: Low dose irradiation for diffuse choroidal hemangioma. Ophthalmic Genet; 2008 Dec;29(4):186-8
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  • [Title] Low dose irradiation for diffuse choroidal hemangioma.
  • Sturge-Weber Syndrome is a nonheritable congenital syndrome characterized by a "port-wine stain" on the face and angioma of the meninges.
  • Ocular findings include diffuse choroidal hemangioma, retinal detachment, and various types of glaucoma.
  • Management of diffuse choroidal hemangioma is aimed at preserving the affected eye and preventing glaucoma.
  • Herein, we describe a case of Sturge-Weber Syndrome with diffuse choroidal hemangioma which was successfully treated with low dose lens-sparing external beam radiotherapy.
  • [MeSH-major] Choroid Neoplasms / radiotherapy. Hemangioma / radiotherapy
  • [MeSH-minor] Adolescent. Female. Humans. Radiotherapy Dosage. Retinal Detachment / etiology. Sturge-Weber Syndrome / complications. Tomography, X-Ray Computed

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  • (PMID = 19005992.001).
  • [ISSN] 1744-5094
  • [Journal-full-title] Ophthalmic genetics
  • [ISO-abbreviation] Ophthalmic Genet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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22. Mennel S, Barbazetto I, Meyer CH, Peter S, Stur M: Ocular photodynamic therapy--standard applications and new indications (part 1). Review of the literature and personal experience. Ophthalmologica; 2007;221(4):216-26

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  • These extended applications include CNV secondary to choroiditis and retinochoroiditis, angioid streaks, central serous chorioretinopathy, retinal angiomatous proliferation, parafoveal telangiectasia or CNV associated with macular dystrophy and idiopathic CNV, as well as diseases without CNV, such as choroidal hemangioma, retinal hamartoma, choroidal melanoma, chronic central serous chorioretinopathy, angiomatous lesions secondary to systemic diseases, rubeosis iridis or neovascular glaucoma.
  • [MeSH-minor] Clinical Trials as Topic. Humans. Retinal Diseases / complications

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  • [Copyright] Copyright (c) 2007 S. Karger AG, Basel.
  • (PMID = 17579286.001).
  • [ISSN] 0030-3755
  • [Journal-full-title] Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde
  • [ISO-abbreviation] Ophthalmologica
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 0 / Porphyrins; 129497-78-5 / verteporfin
  • [Number-of-references] 89
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23. Opocher G, Schiavi F: Genetics of pheochromocytomas and paragangliomas. Best Pract Res Clin Endocrinol Metab; 2010 Dec;24(6):943-56
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  • The best known hereditary forms of pheochromocytoma and paraganglioma are the von Hippel-Lindau disease, in which pheochromocytoma may be associated with CNS hemangioblastoma, retinal angioma, pancreatic endocrine tumor/cysts and renal clear cell carcinoma/cysts; the multiple endocrine neoplasia type 2, in which pheochromocytoma is associated with medullary thyroid carcinoma and primary hyperparathyroidism, Type 1 neurofibromatosis, the most frequent hereditary cancer syndrome.


24. Muzumdar DP, Goel A, Fattepurkar S, Goel N: Endolymphatic sac carcinoma of the right petrous bone in Von Hippel-Lindau disease. J Clin Neurosci; 2006 May;13(4):471-4
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  • A 31-year-old man was treated for a left eye retinal angioma 10 years previously and had been blind in that eye since.

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  • (PMID = 16678727.001).
  • [ISSN] 0967-5868
  • [Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • [ISO-abbreviation] J Clin Neurosci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Scotland
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25. Kreusel KM: Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications. Fam Cancer; 2005;4(1):43-7
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  • Capillary retinal angioma, a benign vascular tumor, is the classical ocular lesion in VHL.
  • It often appears as the first manifestation of the disease and may thus lead to the diagnosis of VHL.
  • [MeSH-major] Hemangioma / etiology. Neurofibromatosis 1 / complications. Neurofibromatosis 1 / diagnosis. Optic Nerve Glioma / etiology. Retinal Neoplasms / etiology. von Hippel-Lindau Disease / complications. von Hippel-Lindau Disease / diagnosis

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  • (PMID = 15883709.001).
  • [ISSN] 1389-9600
  • [Journal-full-title] Familial cancer
  • [ISO-abbreviation] Fam. Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Netherlands
  • [Number-of-references] 63
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26. Munteanu G, Giuri S, Munteanu M: [Wyburn-Mason syndrome]. Oftalmologia; 2007;51(3):69-74
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  • INTRODUCTION: The Wyburn-Mason or Bonnet, Dechaume, and Blanc syndrome is a rare congenital anomaly formed of malformations of the retinal vessels, orbito-cerebral vessels, and, rarely, facial vessels.
  • The ophthalmoscopic examination reveals extensive retinal arterio-venous malformations, also confirmed at orbito-cerebral level by ultrasound and MRI DISCUSSION: The Wyburn-Mason syndrome is due to arterio-venous anastomosis, being included in the phakomatosis group.
  • Aspects of differential diagnosis, pathogeny, and treatment are discussed.
  • CONCLUSIONS: The Wyburn-Mason syndrome can be suspected in cases of facial angioma, exophthalmos, or decreased visual acuity.
  • The diagnosis imposes additional examinations with orbito-cerebral imagery.
  • [MeSH-major] Arteriovenous Malformations. Ophthalmic Artery / abnormalities. Retina / abnormalities. Retinal Artery / abnormalities

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  • (PMID = 18064958.001).
  • [ISSN] 1220-0875
  • [Journal-full-title] Oftalmologia (Bucharest, Romania : 1990)
  • [ISO-abbreviation] Oftalmologia
  • [Language] rum
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Romania
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27. Bornfeld N, Kreusel KM: [Capillary hemangioma of the retina in cases of von Hippel-Lindau syndrome. New therapeutic directions]. Ophthalmologe; 2007 Feb;104(2):114-8
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  • [Title] [Capillary hemangioma of the retina in cases of von Hippel-Lindau syndrome. New therapeutic directions].
  • [Transliterated title] Kapilläre Hämangiome der Netzhaut beim Von-Hippel-Lindau-Syndrom. Neue Therapieansätze.
  • Photodynamic treatment is an alternative option in the management of capillary hemangiomas of the retina.
  • [MeSH-major] Hemangioma, Capillary / therapy. Retinal Neoplasms / therapy. von Hippel-Lindau Disease

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  • (PMID = 17256181.001).
  • [ISSN] 0941-293X
  • [Journal-full-title] Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
  • [ISO-abbreviation] Ophthalmologe
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Protons
  • [Number-of-references] 51
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28. Nakaji S, Hirata N, Kobayashi M, Saito J, Shiratori T, Tomonari A, Inase M, Tochitani S, Iwata M, Fukatsu K, Fujii H, Kataoka J, Tamaki N, Ohmori J, Ishii E, Ito H, Wakasugi S: [Case of von Hippel-Lindau disease diagnosed by detection of multiple pancreatic endocrine tumors and renal tumor 13 years after bilateral adrenalectomy]. Nihon Shokakibyo Gakkai Zasshi; 2010 Dec;107(12):1978-87
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  • His past history included left retinal angioma (age 15) and bilateral adrenal pheochromocytoma (age 27).
  • After diagnosis, distal pancreatectomy (body-tail) was performed.
  • [MeSH-major] Adrenalectomy. Kidney Neoplasms / diagnosis. Neoplasms, Multiple Primary. Pancreatic Neoplasms / diagnosis. von Hippel-Lindau Disease / diagnosis
  • [MeSH-minor] Adrenal Gland Neoplasms / surgery. Adult. Chromosomes, Human, Pair 3 / genetics. Hemangioma. Humans. Male. Pancreatectomy. Pheochromocytoma / surgery. Retinal Neoplasms. Time Factors

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  • (PMID = 21139368.001).
  • [ISSN] 0446-6586
  • [Journal-full-title] Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
  • [ISO-abbreviation] Nihon Shokakibyo Gakkai Zasshi
  • [Language] jpn
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Japan
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29. Sovinz P, Urban C, Uhrig S, Stepan V, Lackner H, Schwinger W, Benesch M, Moser A, Spuller E, Speicher MR: Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. Am J Med Genet A; 2010 Jul;152A(7):1752-5
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  • Extended analyses of her relatives showed that the mutation occurred de novo in the patient's father who was subsequently diagnosed with bilateral pheochromocytomas and a retinal angioma.

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  • [Copyright] (c) 2010 Wiley-Liss, Inc.
  • (PMID = 20583150.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] EC 6.3.2.19 / VHL protein, human; EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
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30. Fons Martínez MR, España Gregori E, Aviñó Martínez JA, Hernández Pardines F: [An optic nerve tumor in von Hippel-Lindau disease, masquerading as a retinal hemangioma]. Arch Soc Esp Oftalmol; 2006 May;81(5):293-6
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  • [Title] [An optic nerve tumor in von Hippel-Lindau disease, masquerading as a retinal hemangioma].
  • [Transliterated title] Angioma retiniano como síndrome mascarada de tumor del nervio óptico en la enfermedad de von Hippel-Lindau.
  • CLINICAL CASE: A 35-year-old man with a family history of von Hippel-Lindau disease was diagnosed to have two retinal hemangiomas in the right eye and another in the left eye.
  • Despite apparent good resolution of the retinal lesions, progressive visual loss was observed.
  • DISCUSSION: The presence of the retinal hemangiomas delayed the diagnosis of an optic nerve tumor in this patient.
  • [MeSH-major] Hemangioma / complications. Hemangioma / diagnosis. Neoplasms, Multiple Primary / diagnosis. Optic Nerve Neoplasms / complications. Optic Nerve Neoplasms / diagnosis. Retinal Neoplasms / complications. Retinal Neoplasms / diagnosis. von Hippel-Lindau Disease / complications

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  • (PMID = 16752322.001).
  • [ISSN] 0365-6691
  • [Journal-full-title] Archivos de la Sociedad Española de Oftalmología
  • [ISO-abbreviation] Arch Soc Esp Oftalmol
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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31. Andonegui-Navarro J, Aranguren-Laflin M, Aliseda-Pérez-de-Madrid D, Rebollo-Aguayo A: [Asymptomatic vasoproliferative retinal tumor]. Arch Soc Esp Oftalmol; 2005 Nov;80(11):675-7

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  • [Title] [Asymptomatic vasoproliferative retinal tumor].
  • [Transliterated title] Tumor vasoproliferativo de la retina asintomático.
  • PURPOSE/METHOD: A case of vasoproliferative retinal tumor is described.
  • RESULTS/CONCLUSIONS: Vasoproliferative retinal tumors are infrequent benign retinal lesions of gliovascular composition.
  • The differential diagnoses needing consideration are a retinal hemangioma associated with von Hippel-Lindau disease, an amelanotic choroidal melanoma and an ocular metastasis from a tumor elsewhere.
  • [MeSH-major] Retinal Neoplasms / pathology

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  • (PMID = 16311959.001).
  • [ISSN] 0365-6691
  • [Journal-full-title] Archivos de la Sociedad Española de Oftalmología
  • [ISO-abbreviation] Arch Soc Esp Oftalmol
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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32. Toldo I, Drigo P, Mammi I, Marini V, Carollo C: Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation. Surg Neurol; 2009 Feb;71(2):167-71
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  • BACKGROUND: Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions.
  • CASE DESCRIPTION: Our study reports a previously described family (IFCAS-07) with 12 members affected by autosomal dominant cavernous angiomas: 11 had CCM either alone or associated with hepatic or retinal angiomas, and one had only hepatic angioma.
  • CONCLUSIONS: To our knowledge, this is the largest family reported with different subjects affected by CCM associated with multiple cavernous angiomas throughout (brain and spinal cord) and besides (retina, skin, liver, and vertebral column) the CNS.
  • We emphasize the importance of spinal MRI in the diagnosis of spinal and vertebral cavernous angiomas in all patients affected by familial CCM.
  • [MeSH-major] Central Nervous System Neoplasms / etiology. Central Nervous System Vascular Malformations / complications. Hemangioma, Cavernous / etiology. Spinal Neoplasms / etiology
  • [MeSH-minor] Adult. Cohort Studies. Female. Humans. Male. Microtubule-Associated Proteins / genetics. Middle Aged. Pedigree. Proto-Oncogene Proteins / genetics. Skin Neoplasms / diagnosis. Skin Neoplasms / etiology. Skin Neoplasms / therapy. Young Adult

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  • (PMID = 18207546.001).
  • [ISSN] 0090-3019
  • [Journal-full-title] Surgical neurology
  • [ISO-abbreviation] Surg Neurol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / KRIT1 protein, human; 0 / Microtubule-Associated Proteins; 0 / Proto-Oncogene Proteins
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33. Ho KW, Dinihan I, Cozzi P, O'Sullivan AJ: Consider von Hippel-Lindau syndrome in young patients presenting with retinal angioma and phaeochromocytoma. Intern Med J; 2005 Aug;35(8):498-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Consider von Hippel-Lindau syndrome in young patients presenting with retinal angioma and phaeochromocytoma.
  • [MeSH-major] Adrenal Gland Neoplasms / diagnosis. Hemangioma / diagnosis. Pheochromocytoma / diagnosis. Retinal Neoplasms / diagnosis. von Hippel-Lindau Disease / diagnosis
  • [MeSH-minor] Adrenalectomy / methods. Adult. Diagnosis, Differential. Female. Follow-Up Studies. Humans. Light Coagulation / methods. Magnetic Resonance Imaging / methods. Risk Assessment. Severity of Illness Index. Treatment Outcome. Vision Disorders / diagnosis. Vision Disorders / etiology


34. Chen L, Huang L, Zhang G, Gordon L: Cavernous hemangioma of the retina. Can J Ophthalmol; 2008 Dec;43(6):718-20
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  • [Title] Cavernous hemangioma of the retina.

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  • (PMID = 19020641.001).
  • [ISSN] 0008-4182
  • [Journal-full-title] Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
  • [ISO-abbreviation] Can. J. Ophthalmol.
  • [Language] ENG
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
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35. Nagpal PN, Mehta V, Nagpal K, Nagpal M: Re: Surgical treatment of a juxtapapillary retinal hemangioma. Retina; 2009 Jul-Aug;29(7):1054-5; author reply 1055
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Re: Surgical treatment of a juxtapapillary retinal hemangioma.
  • [MeSH-major] Hemangioma / surgery. Retinal Neoplasms / surgery

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  • [CommentOn] Retina. 2008 Jun;28(6):900-3 [18536610.001]
  • (PMID = 19584666.001).
  • [ISSN] 1539-2864
  • [Journal-full-title] Retina (Philadelphia, Pa.)
  • [ISO-abbreviation] Retina (Philadelphia, Pa.)
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] United States
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36. Nadal J, Abreu R, Barraquer R: Surgical treatment of a juxtapapillary retinal hemangioma. Retina; 2008 Jun;28(6):900-3
Hazardous Substances Data Bank. INDOCYANINE GREEN .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Surgical treatment of a juxtapapillary retinal hemangioma.
  • [MeSH-major] Hemangioma / surgery. Ligation / methods. Ophthalmologic Surgical Procedures. Optic Disk / blood supply. Retinal Neoplasms / surgery. Retinal Vessels / surgery

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  • [CommentIn] Retina. 2009 Jul-Aug;29(7):1054-5; author reply 1055 [19584666.001]
  • (PMID = 18536610.001).
  • [ISSN] 0275-004X
  • [Journal-full-title] Retina (Philadelphia, Pa.)
  • [ISO-abbreviation] Retina (Philadelphia, Pa.)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Coloring Agents; IX6J1063HV / Indocyanine Green
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