Neuroretinal dysfunction in patients affected by neurofibromatosis type 1

Area of Science:

• Ophthalmology
• Neuroscience
• Genetics

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder that can affect various parts of the body, including the nervous system and eyes.
• Optic pathway gliomas (OPGs) are a common complication in NF1, but neuroretinal function in patients without OPGs is less understood.
• Assessing neuroretinal function is crucial for understanding the full spectrum of ocular manifestations in NF1.

Purpose of the Study:

• To evaluate neuroretinal function in patients with NF1 but without OPGs using multifocal electroretinography (mfERG).
• To identify potential subclinical retinal changes in NF1 patients.
• To explore the utility of mfERG in monitoring NF1 patients.

Main Methods:

• mfERG testing was performed on 35 NF1 patients (without OPGs) and 30 healthy controls.
• All participants had best corrected visual acuity (BCVA) of 20/20 or better.
• mfERG P1 wave amplitudes and implicit times were analyzed in central and peripheral retinal areas.

Main Results:

• NF1 patients exhibited significantly reduced P1 wave amplitudes in the peripheral retina (2-25 degrees) compared to controls.
• No significant difference in P1 wave amplitudes was found in the central 2 degrees between groups.
• Implicit times of the P1 wave showed no significant differences between NF1 patients and controls in any retinal area.

Conclusions:

• Neuroretinal function is impaired in NF1 patients, manifesting as decreased P1 wave amplitude in the peripheral retina.
• This impairment may be linked to altered intracellular signaling pathways involving cyclic adenosine monophosphate (cAMP).
• mfERG shows potential as a tool for detecting subclinical retinal damage and monitoring NF1 patients.