Manifestaciones oftalmológicas de neurofibromatosis tipo 1 en dos hermanas

Resum

Objective: 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 Clínico 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.