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
Zeitschrift:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Datum der Publikation: 2017

Ausgabe: 92

Nummer: 12

Seiten: 605-608

Art: Artikel

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

Andere Publikationen in: Archivos de la Sociedad Española de Oftalmologia

Ziele für nachhaltige Entwicklung

Zusammenfassung

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