Título / Title

VON-HIPPEL-LINDAU DISEASE WITH RETINAL INVOLVEMENT

Introdução / Purpose

To emphasize the importance of screening for the appearance of retinal hemangioblastomas in patients with Von-Hippel-Lindau disease for early identification and to allow rapid intervention, avoiding visual loss and trying to better control of retinal involvement.

Material e Método / Methods

Case description about Von-Hippel-Lindau disease with retinal hemangioblastomas leading to a tractional and exsudative retinal detachment.

Resultados / Results

Report of a 42 years old male paciente with a complaint of low visual acuity in the left eye 1 month ago. He had previously underwent surgery for hemangioblastoma excision in the cerebellum and spine. He presented best corrected visual acuity of 20/20 on right eye and hand motions on left eye. Right eye funduscopy was unremarkable and left eye showed optic disc blurring, vascular tortuosity, hard exudates and two vascular saccular lesions, one located in the upper temporal arcade and another in the upper periphery, with associated fibrosis. Upon follow-up appointment, tractional detachment of the nasal and inferior retina in the left eye was detected.
Posterior vitrectomy was performed, endolaser applied to four hemangioblastomas, cauterization and resection of the bigger hemangioblastoma located at 12h, removal of macular and peripheral membranes and infusion of silicone oil. A month after surgery, the patient improved his visual acuity to 20/500 and was followed up. Five months later, traction was seen in inferior quadrants with temporal and nasal inferior retina detachment that spared macula and temporal region. Silicone oil was then maintained and there was no change in the chart for the next 12 months.

Discussão e Conclusões / Conclusion

Von Hippel–Lindau is an autosomal dominant disease characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. The main manifestations of VHL are hemangioblastomas of the central nervous system and retina.

Palavras Chave

Von Hippel–Lindau; Retina; Vitrectomy; Hemangioblastoma