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      Treatment of Capillary Hemangioblastoma in Von Hippel-Lindau Disease: Case Report and Online Survey of Treatment Preferences among Experts


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          This case report aims to describe the diagnosis, treatment, and evolution of bilateral, asymmetrical retinal capillary hemangioblastomas treated with argon laser and intravitreal anti-vascular endothelial growth factor and also reports the results of an online survey of treatment preferences among retina and vitreous specialists. A previously healthy 23-year-old female presented to our Retina Department complaining of progressive visual loss in her right eye. Visual acuity at admission was 20/300 in her right eye and 20/20 in her left eye. Anterior segment findings were unremarkable and fundoscopy revealed the presence of retinal capillary hemangioblastomas in both eyes. In the right eye, the hemangioblastoma was associated with pronounced exudation and macular edema; in the left eye, the lesion was quiescent. After a complete anamnesis and genetic counseling, Von Hippel-Lindau disease was diagnosed. Treatment with laser photocoagulation was performed on both eyes. One dose of 0.5 mg intravitreal ranibizumab was applied to the right eye. Two months after treatment, the right eye demonstrated improved visual acuity (20/100). Moreover, an important decrease in tumor dimensions and a reduction of vessel tortuosity was seen in both eyes. At 18 months of follow-up, the patient maintains a good visual acuity without recurrence of the treated tumors. Laser treatment should be considered as the primary treatment option for patients with capillary hemangioblastomas with and without exudation and can be combined with intravitreal antiangiogenics if exudation is significant. Inactive smaller lesions without exudation are likely to have an excellent response to laser treatment alone. Management should be individualized since no consensus between experts has been reached.

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          Most cited references11

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          von Hippel-Lindau disease.

          von Hippel-Lindau disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3. This disorder is not rare (about one in 36000 livebirths) and is inherited as a highly penetrant autosomal dominant trait (ie, with a high individual risk of disease). Affected individuals are at risk of developing various benign and malignant tumours of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive adnexal organs. Because of the complexities associated with management of the various types of tumours in this disease, treatment is multidisciplinary. We present an overview of the clinical aspects, management, and treatment options for von Hippel-Lindau disease.
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            Von Hippel-Lindau disease: a genetic study.

            Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between families ascertained through complete and incomplete selection. The point prevalence of heterozygotes in East Anglia was 1.89/100,000 (1/53,000) persons with an estimated birth incidence of 2.73/100,000 (1/36,000) live births. Reproductive fitness was 0.83. Direct and indirect estimates of the mutation rate were 4.4 (95% CI 0.9 to 7.9) x 10(-6)/gene/generation and 2.32 x 10(-6)/gene/generation respectively. There was no significant association between parental age or birth order and new mutations for VHL disease.
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              von Hippel-Lindau disease.

              In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approximately 7000 patients with VHL disease in the USA. The inheritance of VHL disease is autosomal dominant with high penetrance. Depending on the clinical circumstances, retinal capillary hemangioma may be managed by observation, laser photocoagulation, cryotherapy, and plaque radiotherapy. Typical extraocular lesions associated with VHL disease are central nervous system hemangioma, renal cyst, renal carcinoma, pancreatic cysts and adenoma, pancreatic islet cell tumors, pheochromocytoma, endolymphatic sac tumor of the inner ear, and cystadenoma of the epididymis and the broad ligament. The life expectancy of affected individuals may be improved by early detection and treatment of varied manifestations with the use of surveillance protocols. Identification of the VHL gene on chromosome 3p25-26 has now made it possible for suspected individuals to undergo genetic testing with a high degree of accuracy. We review herein the ophthalmic manifestations and treatment of retinal capillary hemangioma and systemic findings of the VHL disease.

                Author and article information

                Case Reports in Ophthalmology
                S. Karger AG
                Januar - April 2020
                10 January 2020
                : 11
                : 1
                : 37-47
                Retina and Vitreous Department, Asociación para Evitar la Ceguera en México IAP, Hospital Dr. Luis Sánchez Bulnes, Mexico City, Mexico
                Author notes
                *Carlos Andrés Valdés Lara, Retina and Vitreous Department, Asociación para Evitar la Ceguera en México IAP, Hospital Dr. Luis Sánchez Bulnes, Vicente Garcia Torres #46 Col., San Lucas Coyoacán, Mexico City 04030 (Mexico), E-Mail carlos_avl95@hotmail.com
                Author information
                504430 PMC6984148 Case Rep Ophthalmol 2020;11:37–47
                © 2020 The Author(s). Published by S. Karger AG, Basel

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC). Usage and distribution for commercial purposes requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                : 04 July 2019
                : 28 October 2019
                Page count
                Figures: 6, Pages: 11
                Case Report

                Vision sciences,Ophthalmology & Optometry,Pathology
                Von Hippel-Lindau disease,Treatment,Capillary hemangioblastoma,Online survey


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