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Ocular Manifestations of von Hippel-Lindau Disease
In this review article, we aimed to analyze the available data on the ocular manifestations of von Hippel-Lindau (VHL) disease. In this disease, the VHL protein becomes inactivated by germline mutations of the VHL tumor suppressor gene on chromosome 3p25-26, resulting in an overproduction of VEGF in...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6776162/ https://www.ncbi.nlm.nih.gov/pubmed/31588386 http://dx.doi.org/10.7759/cureus.5319 |
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author | Ruppert, Misty D Gavin, Meredith Mitchell, Kelly T Peiris, Alan N |
author_facet | Ruppert, Misty D Gavin, Meredith Mitchell, Kelly T Peiris, Alan N |
author_sort | Ruppert, Misty D |
collection | PubMed |
description | In this review article, we aimed to analyze the available data on the ocular manifestations of von Hippel-Lindau (VHL) disease. In this disease, the VHL protein becomes inactivated by germline mutations of the VHL tumor suppressor gene on chromosome 3p25-26, resulting in an overproduction of VEGF in non-hypoxic conditions. Ocular manifestations are expected in roughly half of VHL patients. Retinal capillary hemangioblastomas (RCHs) are the most commonly observed tumors in VHL and are often the initial manifestation of the disease. Ablative therapy, surgical resection, and pharmacotherapy have been implemented to control tumors. Left untreated, RCHs will often enlarge, emphasizing the importance of early diagnosis and treatment to preserve vision. Complications of enlarging peripheral or optic nerve tumors may be severe. Large RCHs may disrupt normal retinal architecture, eventually leading to exudative retinal detachment. Rarely, non-retinal manifestations, such as neovascularization of the iris or cornea, may progress to neovascular glaucoma and vision loss. Ablative therapy of larger tumors carries increasing risks and offers limited success, often necessitating surgical resection. Because this life-threatening disease is not routinely encountered in clinical practice, clinicians will benefit from our review which brings awareness to the ocular presentation of VHL and lifelong screening recommendations for diagnosed patients. |
format | Online Article Text |
id | pubmed-6776162 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-67761622019-10-06 Ocular Manifestations of von Hippel-Lindau Disease Ruppert, Misty D Gavin, Meredith Mitchell, Kelly T Peiris, Alan N Cureus Endocrinology/Diabetes/Metabolism In this review article, we aimed to analyze the available data on the ocular manifestations of von Hippel-Lindau (VHL) disease. In this disease, the VHL protein becomes inactivated by germline mutations of the VHL tumor suppressor gene on chromosome 3p25-26, resulting in an overproduction of VEGF in non-hypoxic conditions. Ocular manifestations are expected in roughly half of VHL patients. Retinal capillary hemangioblastomas (RCHs) are the most commonly observed tumors in VHL and are often the initial manifestation of the disease. Ablative therapy, surgical resection, and pharmacotherapy have been implemented to control tumors. Left untreated, RCHs will often enlarge, emphasizing the importance of early diagnosis and treatment to preserve vision. Complications of enlarging peripheral or optic nerve tumors may be severe. Large RCHs may disrupt normal retinal architecture, eventually leading to exudative retinal detachment. Rarely, non-retinal manifestations, such as neovascularization of the iris or cornea, may progress to neovascular glaucoma and vision loss. Ablative therapy of larger tumors carries increasing risks and offers limited success, often necessitating surgical resection. Because this life-threatening disease is not routinely encountered in clinical practice, clinicians will benefit from our review which brings awareness to the ocular presentation of VHL and lifelong screening recommendations for diagnosed patients. Cureus 2019-08-04 /pmc/articles/PMC6776162/ /pubmed/31588386 http://dx.doi.org/10.7759/cureus.5319 Text en Copyright © 2019, Ruppert et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Endocrinology/Diabetes/Metabolism Ruppert, Misty D Gavin, Meredith Mitchell, Kelly T Peiris, Alan N Ocular Manifestations of von Hippel-Lindau Disease |
title | Ocular Manifestations of von Hippel-Lindau Disease |
title_full | Ocular Manifestations of von Hippel-Lindau Disease |
title_fullStr | Ocular Manifestations of von Hippel-Lindau Disease |
title_full_unstemmed | Ocular Manifestations of von Hippel-Lindau Disease |
title_short | Ocular Manifestations of von Hippel-Lindau Disease |
title_sort | ocular manifestations of von hippel-lindau disease |
topic | Endocrinology/Diabetes/Metabolism |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6776162/ https://www.ncbi.nlm.nih.gov/pubmed/31588386 http://dx.doi.org/10.7759/cureus.5319 |
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