Retinal microvascular abnormalities in neurofibromatosis type 1

Area of Science:

• Ophthalmology
• Medical Genetics
• Radiology

Background:

• Neurofibromatosis 1 (NF1) is a genetic disorder that can affect various organ systems.
• Retinal vascular abnormalities have been anecdotally reported in NF1 patients.
• A systematic classification and quantitative analysis of these abnormalities are lacking.

Purpose of the Study:

• To classify retinal vascular arrangements in patients with neurofibromatosis 1 (NF1).
• To provide qualitative and quantitative information on these vascular patterns.
• To assess the diagnostic accuracy and predictability of identified retinal microvascular arrangements.

Main Methods:

• A cohort of 334 NF1 patients and 106 healthy controls underwent comprehensive ophthalmological examinations.
• Spectral domain Optical Coherence Tomography (OCT) with near-infrared reflectance retinography was utilized.
• Brain MRI was performed to detect optic nerve gliomas, and diagnostic indicators were calculated.

Main Results:

• Microvascular abnormalities were found in 31.4% of NF1 patients.
• Simple vascular tortuosity was the most frequent abnormality (74.3% of affected patients).
• A significant correlation was observed between microvascular abnormalities and patient age (p=0.02).

Conclusions:

• Microvascular alterations are present in a significant proportion of NF1 patients.
• Simple vascular tortuosity is positively associated with patient age and the presence of neurofibromas.
• These findings highlight the ocular manifestations in NF1 and their association with clinical features.