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Journals / Retina-Vitreus / 2010 / Cilt: 18 - Sayı: 4

The unusual ocular presentation of von hippel-lindau disease

Von hippel-lindau hastalığının sıradışı oküler prezantasyonu

Zeynep ALKIN
Ziya KAPRAN
Tuğrul ALTAN
Yaprak Banu ÜNVER
Nur ACAR
Pages
314–317
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The patient with VHL disease who just admitted with complaints of bilateral visual loss was presented in this paper.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Von Hippel-Lindau (VHL) disease is an inherited multisystem cancer syndrome caused by mutations of the VHL gene on chromosome 3p25.
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Key Findings & Data:The prevalence of disease ranges from 1/30.000-50.000.
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Conclusion & Impact:The patient with VHL disease who just admitted with complaints of bilateral visual loss was presented in this paper.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Von Hippel-Lindau (VHL) disease is an inherited multisystem cancer syndrome caused by mutations of the VHL gene on chromosome 3p25. The prevalence of disease ranges from 1/30.000-50.000. The neurological complications arising from cerebellar hemangioblastomas or metastatic renal cell carcinomas are the most common cause of death in VHL patients. The patient with VHL disease who just admitted with complaints of bilateral visual loss was presented in this paper.

Özet

Von Hippel-Lindau (VHL) hastalığı kromozom 3p25 üzerinde bulunan VHL geninin mutasyonu sonucu oluşan; kalıtımsal ve birçok sistemi etkileyen bir kanser sendromudur. Görülme sıklığı 1/30.000-50.000 arasında değişmektedir. VHL hastalarında en sık ölüm nedeni serebellar hemanjioblastomlardan kaynaklanan nörolojik komplikasyonlar veya metastatik renal hücreli karsinomlardır. Bu yazıda sadece iki taraflı görme kaybı şikayeti ile kliniğimize başvuran ve VHL hastalığı tanısı konulan bir olgu sunulmuştur.

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Cite This Article

ALKIN, Z., KAPRAN, Z., ALTAN, T., ÜNVER, Y. B., ACAR, N. (2010). The unusual ocular presentation of von hippel-lindau disease. Retina-Vitreus, Cilt: 18 - Sayı: 4, 314–317. https://ajindex.com/articles/308171

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