Von Hippel-Lindau Hastalığı: Retinal Hemanjiyoblastomların Tanıdaki Önemi
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Von Hippel-Lindau (VHL) hastalığı birden fazla sistemi ilgilendiren selim veya habis tümörlerle karakterize ailesel kanser sendromudur. Retinal hemanjiyoblastomlar genellikle hastalığın ilk bulgusu olup görme kaybına neden olabilmektedirler. Otuz iki yaşında erkek hasta sol gözünde 2 aydır olan görme kaybı nedeniyle kliniğimize başvurdu. Hastanın serebral hemanjiyoblastom nedeniyle daha önce opere olduğu, soygeçmişinde annesinin bir gözünde ileri görme kaybı bulunduğu ve böbrek kanseri nedeniyle kaybedildiği öğrenildi. Olgunun oftalmolojik muayenesinde her iki gözde çok sayıda retinal hemanjiyoblastomlar görüldü. Hastaya VHL gen dizi analizi yapıldı ve heterozigot p.R161X mutasyonu saptandı. Hastanın kız kardeşinde ve kızında da aynı mutasyon belirlendi. Hasta ve etkilenmiş aile bireyleri için izlem ve tedavi planı düzenlendi. Retinal hemanjiyoblastomların ayırıcı tanısında VHL hastalığının düşünülmesi bu hastalarda görülen hayatı tehdit eden tümörlerin erken saptanmasında önemli bir yere sahiptir.
Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal hemangioblastomas are usually the initial manifestation of VHL disease and can cause vision loss. A 32-yearold man presented to our clinic with vision loss in the left eye for 2 months. He had a history of cerebral hemangioblastoma operation. Family history showed that his mother had unilateral vision loss and died because of renal cell carcinoma. Ophthalmologic examination revealed multiple retinal hemangioblastomas in both eyes. VHL gene sequencing was performed and heterozygous p.R161X mutation was detected. His sister and daughter were also found to have the same variant. A treatment and follow-up plan was initiated for the patient and affected family members. Considering VHL disease in the differential diagnosis of retinal hemangioblastomas has a very important role in the early detection of life-threatening tumors in these patients.
Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal hemangioblastomas are usually the initial manifestation of VHL disease and can cause vision loss. A 32-yearold man presented to our clinic with vision loss in the left eye for 2 months. He had a history of cerebral hemangioblastoma operation. Family history showed that his mother had unilateral vision loss and died because of renal cell carcinoma. Ophthalmologic examination revealed multiple retinal hemangioblastomas in both eyes. VHL gene sequencing was performed and heterozygous p.R161X mutation was detected. His sister and daughter were also found to have the same variant. A treatment and follow-up plan was initiated for the patient and affected family members. Considering VHL disease in the differential diagnosis of retinal hemangioblastomas has a very important role in the early detection of life-threatening tumors in these patients.
Açıklama
Anahtar Kelimeler
Göz Hastalıkları
Kaynak
Türk Oftalmoloji Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
47
Sayı
3
