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Vol. 92. Issue 12.
Pages 605-608 (December 2017)
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Vol. 92. Issue 12.
Pages 605-608 (December 2017)
Short communication
Difficulties in the management of retinal capillary haemangiomas associated with von Hippel Lindau disease
Dificultades en el manejo de los hemangiomas capilares retinianos asociados a enfermedad de von Hippel-Lindau
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M. Pastor-Montoro
Corresponding author
pastormontoro@gmail.com

Corresponding author.
, N. Hurtado-Montalbán, J.A. Martínez-Morales, M.P. Villegas-Pérez
Servicio de Oftalmología, Hospital General Universitario Reina Sofía, Murcia, Spain
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Abstract
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.

Keywords:
Retinal capillary haemangiomas
Von Hippel–Lindau disease
Genetic study
Laser photocoagulation
Resumen
Caso clínico

Mujer de 29 años con hemangiomas capilares retinianos (HCR) bilaterales. Ante la sospecha clínica de enfermedad de von Hippel Lindau (VHL), se realizan estudios genéticos que son negativos en 2ocasiones. Se produce progresión de los HCR del ojo izquierdo, con aparición de membrana epimacular, que son tratados con láser, ranibizumab intravítreo y vitrectomía. Finalmente, el tercer estudio genético detecta una mutación de novo en el gen VHL que permite confirmar el diagnóstico.

Discusión

El síndrome de VHL causa una enfermedad ocular compleja y de difícil diagnóstico que requiere tratamiento precoz de los HCR para modificar el pronóstico visual.

Palabras clave:
Hemangiomas capilares retinianos
Enfermedad de von Hippel Lindau
Estudio genético
Fotocoagulación láser

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