1/20. Morphologic and genetic analysis of retinal angioma associated with massive gliosis in a patient with von hippel-lindau disease.We report morphologic and genetic analysis of bilateral retinal angiomas in a 35-year-old patient with von Hippel-Lindau (VHL) disease. Enucleation of both eyes revealed extensive intraocular tumor. Whereas the right eye demonstrated large amounts of retinal angioma tissue, the left eye showed small areas of retinal angioma associated with massive diffuse retinal gliosis. Genetic analysis of the angioma showed allelic deletion of the VHL gene locus, suggesting that the origin of the angiomas was directly related to the patient's underlying VHL disease. Genetic analysis of the pleomorphic glial proliferation showed no allelic VHL gene deletion, which is consistent with the assessment that the glial component represents a reactive process. apoptosis detected by TUNEL revealed lack of dna fragmentation in the angioma; in contrast, many positive signals were found in the massive gliosis. We confirmed that the abnormal VHL genes were located in the "stromal" cells of the retinal angioma. Massive gliosis in VHL disease is a true reactive retinal gliosis.- - - - - - - - - - ranking = 1keywords = von (Clic here for more details about this article) |
2/20. Postpartum cerebellar herniation in von Hippel-Lindau syndrome.PURPOSE: To describe exacerbation during pregnancy of cerebellar hemangioblastoma in von Hippel-Lindau syndrome. METHOD: Case-report. A 21-year-old woman with von Hippel-Lindau syndrome was found on routine ocular examination to have severe papilledema 1 week after giving birth. RESULTS: Immediate magnetic resonance imaging disclosed a large cerebellar cyst from hemangioblastoma causing cerebellar tonsillar herniation. Immediate neurosurgical intervention was life saving. CONCLUSION: Worsening of intracranial hemangioblastoma during pregnancy in cases of von Hippel-Lindau syndrome should be realized and periodic neurologic and ophthalmologic observation is warranted.- - - - - - - - - - ranking = 1.4keywords = von (Clic here for more details about this article) |
3/20. Somatic mosaicism in von hippel-lindau disease.von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.- - - - - - - - - - ranking = 1.4keywords = von (Clic here for more details about this article) |
4/20. Therapeutic options for capillary papillary hemangiomas.PURPOSE: To describe the results and therapeutic complications of treatment of papillary capillary hemangiomas over the last 13 years. DESIGN: Retrospective, noncomparative, interventional case series. PARTICIPANTS: Five cases of unilateral capillary papillary hemangiomas were reviewed. Three patients had von Hippel-Lindau disease, and two had no associated familial or systemic disease. methods: Two patients were treated with argon green laser, one patient received argon green and diode photocoagulation, and two patients underwent argon green photocoagulation and diode transpupillary thermotherapy (TTT); two eyes also underwent vitreoretinal surgery. Follow-up ranged from 1 to 13 years. MAIN OUTCOME MEASURES: The presence of exudative retinal detachment associated with the activity of the hemangioma and the visual acuity were the two main parameters. RESULTS: Prompt argon green laser treatment was the most effective therapy; -II was ineffective. vitreoretinal surgery, transscleral drainage, and argon endolaser photocoagulation in one case resolved bullous retinal detachment secondary to tumor exudation. Pretreatment visual acuity (VA) levels ranged from 20/25 to counting fingers; posttreatment VA levels ranged from 20/25 to light perception. CONCLUSIONS: If left untreated, papillary hemangiomas may evolve to exudative retinal detachment and marked VA decreases. Although we have not established an ideal therapy, we recommend appropriate treatment on diagnosis. Close follow-up and multiple treatments with argon laser are likely the best therapeutic course.- - - - - - - - - - ranking = 0.2keywords = von (Clic here for more details about this article) |
5/20. DNA-based diagnosis of the von Hippel-Lindau syndrome.PURPOSE: To evaluate the etiology of a unilateral hemangioblastoma noted in a male with a family history remarkable only for spine surgery in the proband's father. methods: Genomic DNA was isolated from peripheral blood of family members, and the three exons of the von Hippel-Lindau gene were examined for mutations by direct sequencing. RESULTS: A three base pair (bp) deletion in exon 1 of the VHL gene was found in the father and both sons. This in-frame deletion results in the loss of a phenylalanine residue from the von Hippel-Lindau protein product, at amino acid position 76. CONCLUSION: Genetic screening has confirmed that von Hippel-Lindau syndrome is responsible for the hemangioblastoma in the proband. magnetic resonance imaging scans performed as a consequence of these results indicated spinal tumors present in the father and tumors present in the cerebellum of the proband's sibling. As close, lifelong follow-up is warranted with this disease, this case demonstrates the value of DNA testing in patients with ocular findings consistent with von hippel-lindau disease in the absence of a recognized family history.- - - - - - - - - - ranking = 1.6keywords = von (Clic here for more details about this article) |
6/20. Transpupillary thermotherapy for retinal capillary hemangioma in von hippel-lindau disease.Retinal capillary hemangiomas are a common manifestation of von hippel-lindau disease. We report the treatment of a peripapillary retinal capillary hemangioma in the left eye of a 30-year-old woman with this condition, using infrared diode laser transpupillary thermotherapy (TTT). The hemangioma was evaluated before and after treatment by ophthalmoscopy, fundus fluorescein angiography, and Doppler ultrasonography. Infrared diode laser TTT was delivered over 3 sessions during a period of 22 weeks, resulting in an improvement in visual acuity from counting fingers to 6/24 and a marked decrease in exudates surrounding the hemangioma. Doppler ultrasonography demonstrated a decrease in intralesional blood flow from 7 cm per second to less than 3 cm per second, together with a decrease in the size of the lesion. Infrared diode laser TTT provides a useful modality in the treatment of retinal capillary hemangiomas, and may be particularly favorable for peripapillary lesions because of its relatively nondestructive characteristics.- - - - - - - - - - ranking = 1keywords = von (Clic here for more details about this article) |
7/20. Retinal abnormalities associated with a mutation of the nucleotide 683 in von hippel-lindau disease.BACKGROUND: von hippel-lindau disease (VHL) is a hereditary cancer syndrome in which affected individuals are at risk of developing tumors in multiple organs, including eyes, cerebellum, spinal cord, kidneys, inner ear, adrenal glands and pancreas. methods: We performed a fundus examination and fluorescein and indocyanine green (ICG) angiography in both eyes of a young woman affected by VHL with bilateral pheochromocytoma, retinal angioma, retinal microaneurysms and unusual alterations of the deep retinal layers. A molecular analysis of the VHL gene was carried out. RESULTS: ophthalmoscopy disclosed in her right eye a small retinal hemangioma, some microaneurysms in both eyes at the posterior pole and multiple, small, whitish, dome-shaped lesions scattered in the retinal pigment epithelium (RPE) of the posterior retina. Fluorescein angiograms revealed in the early phase multiple hyperfluorescent spots that showed progressive discoloration in the late phase of angiography. Some of these spots were ophthalmoscopically undetectable. The late phase of ICG angiography showed some small hyperfluorescent points located at the level of the RPE, and some of them corresponded to the hyperfluorescent spots seen on fluorescein angiography. The molecular analysis revealed the presence of a "missense" mutation of the VHL gene at nucleotide 683. CONCLUSIONS: Alterations in the RPE have never been observed in the VHL syndrome. We describe an unusual case of VHL with a capillary hemangioma associated to diffuse alterations with the RPE of the posterior retina. The possibility exists that these lesions form part of the eye modifications in VHL.- - - - - - - - - - ranking = 1keywords = von (Clic here for more details about this article) |
8/20. Transretinal feeder vessel ligature in von hippel-lindau disease.PURPOSE: To present a new technique called transretinal feeder vessel ligature for the treatment of retinal angiomas. methods: Case report of a patient with peripheral retinal angiomas previously treated unsuccessfully with photocoagulation who responded to this new, alternative surgical treatment. RESULTS: The retinal angiomas decreased in size although two new feeder vessels appeared and the lesions showed a regression pattern after additional laser therapy over the vascular tumors. CONCLUSIONS: A transretinal feeder vessel ligature in association with vitrectomy and photocoagulation may be useful for some advanced or non-responsive cases of retinal angiomas.- - - - - - - - - - ranking = 0.8keywords = von (Clic here for more details about this article) |
9/20. von hippel-lindau disease type 2A in a family with a duplicated 21-base-pair in-frame insertion mutation in the VHL gene.BACKGROUND: von hippel-lindau disease (VHL), also called angiomatosis retinae, is inherited as an autosomal dominant trait. It is frequently associated with other tumors in the central nervous system, kidneys, or adrenal glands. In order to investigate the relationship between genotype and corresponding phenotypes, we performed molecular genetic analysis in a Japanese patient with VHL type 2A. methods: After informed consent had been obtained, the three exons of the VHL gene were PCR-amplified and sequenced either directly or after subcloning. Clinical features were also examined. RESULTS: A novel in-frame duplication of the 21 base pairs at nucleotide 806 (the position of codon 198) of the VHL gene was found in our patient. The clinical phenotype of the patient included retinal hemangiomas associated with vitreous hemorrhage and traction retinal detachment, pheochromocytoma, and hemangioma-like lesions in the cerebellum which corresponded to those of VHL type 2A. Abnormal diffuse vascular leakage was observed in the apparently intact retina by fluorescein angiography. CONCLUSION: An insertion mutation of the VHL gene is a rare association with VHL type 2. This insertion mutation may interfere the binding between the VHL gene and elongins. Abnormal retinal vascular leakage suggests the possible effects of overexpressed vascular permeability factors such as vascular endothelial growth factor from hemangiomas associated with defective VHL gene.- - - - - - - - - - ranking = 1keywords = von (Clic here for more details about this article) |
10/20. Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas.PURPOSE: To test the efficacy of the novel vascular endothelial growth factor (VEGF) receptor inhibitor SU5416, in a case of refractory von Hippel-Lindau (VHL) retinal hemangioblastoma (RHB). DESIGN: Interventional case report. methods: Patient included in a multicenter phase II trial. A 30-year-old woman presenting with VHL disease and multiple RHB on her only eye, refractory to conventional treatments, had decreased visual acuity due to cystoid macular edema (CME). SU5416 was administered intravenously for 7 months. Best-corrected visual acuity (BCVA) and macular thickness were measured by optical coherence tomography. RESULTS: Under treatment, the size of the RHB did not change, but CME improved significantly. Best-corrected visual acuity rose from 20/40 to 20/25. However, CME recurred after the end of the treatment. CONCLUSION: The VEGF receptor inhibitor SU5416 failed to reduce the size of RHB but was very effective for the associated CME.- - - - - - - - - - ranking = 1keywords = von (Clic here for more details about this article) |
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