Difficulties in the management of retinal capillary haemangiomas associated with von Hippel Lindau disease.
METHODS
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 2occasions. 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.


CONCLUSIONS
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.
Servicio de Oftalmología, Hospital General Universitario Reina Sofía, Murcia, España. Electronic address: pastormontoro@gmail.com.
M
M
Pastor-Montoro
Servicio de Oftalmología, Hospital General Universitario Reina Sofía, Murcia, España.
N
N
Hurtado-Montalbán
Servicio de Oftalmología, Hospital General Universitario Reina Sofía, Murcia, España.
J A
JA
Martínez-Morales
Servicio de Oftalmología, Hospital General Universitario Reina Sofía, Murcia, España.
M P
MP
Villegas-Pérez
D000328:Adult; D005260:Female; D018324:Hemangioma, Capillary / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006801:Humans; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006623:von Hippel-Lindau Disease / Q000150:complications
Enfermedad de von Hippel Lindau; Estudio genético; Fotocoagulación láser; Genetic study; Hemangiomas capilares retinianos; Laser photocoagulation; Retinal capillary haemangiomas; Von Hippel-Lindau disease