Manifestaciones oftalmológicas de neurofibromatosis tipo 1 en dos hermanas

espanolObjetivo: Describir las caracteristicas clinicas oftalmologicas de la neurofibromatosis tipo 1 (NF1) en dos hermanas. Metodo: Los casos que se presentan son dos hermanas afectas de NF 1 de 29 y 43 anos de edad en seguimiento en el Hospital Clinico San Carlos. Para la caracterizacion y descripcion de la afectacion oftalmica se realizaron campimetrias Humphrey, tomografia de coherencia optica con dispositivos Heidelberg y Cirrus, RMN de nervio optico, y varias fotografias de caracteristicas relevantes para el diagnostico. Resultados: Las pacientes fueron diagnosticadas a los 16 y 30 anos. Sus progenitores no tenian NF1. No presentaban disminucion de la agudeza visual ni afectaciones campimetricas. Una de ellas presento un glioma de nervio optico unilateral sin manifestaciones clinicas que sigue revisiones sin progresion radiologica. La fundoscopia mostraba una asimetria papilar. En ambas hermanas se detectaron nodulos iridianos de Lisch, y nervios corneales prominentes. Discusion: La NF1 es una enfermedad de herencia autosomica dominante causada por mutaciones del gen NF1. Se necesitan al menos dos criterios para el diagnostico, entre ellos algunos oftalmologicos como la presencia de dos nodulos de Lisch, o el glioma de nervio optico. Conclusiones: Ambas hermanas presentaban criterios diagnosticos para NF1. Una de las hermanas presentaba un glioma optico sin afectacion clinica. Los casos presentados son poco frecuentes, y dificiles de encontrar agregados en la misma familia cuando los progenitores no tienen la enfermedad EnglishObjective: To describe the ophthalmological clinical findings of neurofibromatosis type 1 (NF1) in two sisters. Method: The cases presented are two sisters, aged 29 and 43 years, affected by NF and monitored at the Hospital Clinico San Carlos. To characterize and describe of the ophthalmic affection several tests were performed: Humphrey perimetry, optical coherence tomography with Heidelberg and Cirrus devices, MRI of optic nerve, and a set of relevant characteristic photographs for the diagnosis. Results: The patients were diagnosed by age16 and 30. Their parents did not have NF1. They did not present either a decrease in visual acuity or perimetry affection. One of them was found a unilateral optic nerve glioma (without clinical manifestations) which follows regular check-ups without radiological progression. The fundoscopy revealed a papillary asymmetry. Lisch nodules, and prominent corneal nerves were detected in both sisters. Discussion: NF 1 is an autosomal dominant disease caused by mutations in the NF1 gene. At least two criteria are needed for diagnosis, among them some ophthalmological ones such as the presence of two Lisch nodules or optic nerve glioma. Conclusions: Both sisters presented diagnostic criteria for NF1. One of the sisters presented an optic glioma without clinical affectation. The cases described are rare It is hard to find siblings with NF1 whose parents do not have the disease.