Título

VON HIPPEL LINDAU SIMULATING COATS' DISEASE IN CHILDHOOD, AN ATYPICAL CASE

Introdução / Purpose

Von Hippel-Lindau disease (VHL) is a hereditary facomatosis that produces multiple tumors.
We report the case of a young patient who had a progressive exudative detachment with progressive enlargement and was previously diagnosed as Coats' disease.

Material e Método / Methods

Analysis of medical records and literature review.

Resultados / Results

IPB of 25 years, female,
  Attended in May 2017 with complaint of floaters in the left eye for 7 days.
OA: Previous diagnosis of Coats disease in the right eye 15 years ago.
Ophthalmic examination
Visual Acuity with best correction: Right Eye (RE): Counting fingers 4m and Left Eye (LE): 0.8
Funduscopy: RE: increased vascular tortuosity, lower nasal exudative detachment extending to the posterior pole; LE: Light vitreous hemorrhage, optic nerve with poorly delimited borders, free macula, increased vascular tortuosity, hemangioblastoma at 6 hours associated with lower and perilesional exudative detachment.
Infectious and autoimmune serologies were negative.
She was treated with a dose of intravitreal injection of corticoid (triamcinolone) and 3 doses of bevacizumab in the RE, and laser photocoagulation in the areas of leakage in both eyes. The patient evolved with VA improvement to 0.1 in RE and 0.8 in LE.

Discussão e Conclusões / Discussion

The definitive diagnosis is through genetic tests, where
the VHL gene, located on the short arm of chromosome 3 (3 p 25-26), is searched.
Retinal capillary hemangioblastomas are often the first manifestation of VHL, ranging from very small capillary abnormalities to large lesions that cause visual impairment. They can often remain stable, with slow growth for many years. However, if there is an accelerated growth there is an increase in vasopermeability, with exudation resulting in a low visual acuity.
The treatment consists of cryotherapy, laser, vitrectomy surgery when there is regmatogenic detachment and / or vitreous hemorrhage, and antiangiogenic or intravitreal corticoid.
Therefore a systemic inventory with imaging tests is fundamental for patient follow-up.

Palavras Chave

Von Hippel Lindau
Hemangioblastoma