Retinal Microvascular Abnormalities in Patients with Type I Neurofibromatosis

ABSTRACT

Purpose@#To evaluate the findings and frequencies of retinal microvascular abnormalities observed in patients with type 1 neurofibromatosis. @*Methods@#Fundus photographs of 61 patients with type 1 neurofibromatosis and 61 controls without systemic disease or ophthalmic abnormalities were retrospectively compared and analyzed. The presence or absence of retinal microvascular abnormalities in the form of simple vascular tortuosity, corkscrew retinal vessels, and moyamoya-like patterns was confirmed, and the diagnostic sensitivity, diagnostic specificity, positive predictive value, negative predictive value, and diagnostic accuracy for type 1 neurofibromatosis were analyzed. @*Results@#Retinal microvascular abnormalities were found in 19.7% (12 patients) of the patient group, There was no cases in the control group, thus. The difference between the patient group and the control group was significant (p = 0.0003). Of the 12 patients with abnormalities, 10 exhibited simple vascular tortuosity, one had corkscrew retinal vessels, and one exhibited both findings. The diagnostic sensitivity of retinal microvascular abnormalities for type 1 neurofibromatosis was 23.53%, the diagnostic specificity was 100%, the positive predictive value was 100%, and the negative predictive value was 61%. The diagnostic accuracy was 65.18%, which was slightly lower than the 79.5% diagnostic accuracy for the Lisch nodule, but the diagnostic accuracy was comparable to that of neurofibroma (68.03%). @*Conclusion@#Retinal microvascular abnormalities were observed in 19.7% of type 1 neurofibromatosis patients, of which simple vascular tortuosity was the most common. Considering that retinal microvascular abnormalities were not observed at all in the control group, and the diagnostic accuracy was 65.18%, this type of abnormality could be included as a new ophthalmic clinical feature of type 1 neurofibromatosis.