Título / Title

VON HIPPEL-LINDAU DISEASE: REPORT OF TWO ATYPICAL CASES

Introdução / Purpose

The purpose of this study is to report two atypical cases and discuss the topic.

Material e Método / Methods

Report of two atypical cases of Von Hippel-Lindau (VHL) disease that evolved to enucleation of the eye. Case 1 – ID: P.B.L., 10 years old, female; mother complained about leukocoria and visual loss. Visual acuity (VA) OD: 20/20; OS: count fingers 50 centimeters. Indirect ophtalmoscopy: OD: without changes; OS: total retinal detachment, multiple retinal capillary hemangioma. Case 2 – F.C.S., 19 years old, female, complaining about visual loss and ocular pain. Visual acuity (VA) OD: 20/20; OS: loss of light perception. Indirect ophtalmoscopy: OD: without changes; OS: total retinal detachment and vitreous hemorrhage.

Resultados / Results

Case 1 – Patient was submitted to retinopexy and laser photocoagulation. After 4 years, OS evolved with phthisis bulbi and enucleation was performed to improve pain. Case 2 – Patient was submitted to laser photocoagulation OD. After 25 years follow up, OS presented severe pain, neovascular glaucoma, secluded pupil and phthisis bulbi. At this time, she agreed to perform enucleation of OS.

Discussão e Conclusões / Conclusion

VHL disease is an autosomal dominantly inherited multisystem cancer syndrome with a predilection for the central nervous system and the retina. Retinal capillary hemangioma is one of the most common and earliest manifestations of VHL disease. Fundus findings are usually typical, and diagnosis can be made based on ophthalmoscopic examination. Various treatment modalities exist, although the mainstays of therapy is laser photocoagulation. VHL disease, however, is associated with significant mortality secondary to either CNS hemangioma or renal cell carcinoma. But, only patient from case 2 presented kidney and CNS tumors, that have been treated by specialists in cooperation with ophthalmologist.

Palavras Chave

Von Hippel- Lindau disease; hemangioblastoma; enucleation