Dificultades en el manejo de los hemangiomas capilares retinianos asociados a enfermedad de von Hippel-Lindau

  1. M.Pastor-Montoro 1
  2. N.Hurtado-Montalbán 1
  3. J.A.Martínez-Morales 1
  4. M.P.Villegas-Pérez 1
  1. 1 Servicio de Oftalmología, Hospital General Universitario Reina Sofía, Murcia, España
Revista:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Any de publicació: 2017

Volum: 92

Número: 12

Pàgines: 605-608

Tipus: Article

DOI: 10.1016/J.OFTAL.2016.12.008 DIALNET GOOGLE SCHOLAR

Altres publicacions en: Archivos de la Sociedad Española de Oftalmologia

Objectius de Desenvolupament Sostenible

Resum

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

Fuente de los datos: Dialnet