Dificultades en el manejo de los hemangiomas capilares retinianos asociados a enfermedad de von Hippel-Lindau
- M.Pastor-Montoro 1
- N.Hurtado-Montalbán 1
- J.A.Martínez-Morales 1
- M.P.Villegas-Pérez 1
- 1 Servicio de Oftalmología, Hospital General Universitario Reina Sofía, Murcia, España
ISSN: 0365-6691
Année de publication: 2017
Volumen: 92
Número: 12
Pages: 605-608
Type: Article
D'autres publications dans: Archivos de la Sociedad Española de Oftalmologia
Objectifs de Développement Durable
Résumé
Clinical case A 29-year-old female with bilateral retinal capillary haemangiomas (RCH). A genetic analysis was carried out due to the suspicion of von Hippel-Lindau (VHL) disease, with negative results on 2 occasions. There was progression of the RCH in the left eye, leading to a macular epiretinal membrane. The patient was treated with laser, intravitreal ranibizumab, and vitrectomy. Finally, a third genetic test detected a de novo mutation in the VHL gene, and led to the genetic diagnosis. Discussion VHL syndrome causes a complex ocular disease with a difficult diagnosis that requires early treatment of the RCH in order to modify its visual prognosis