Posterior pole retinal abnormalities in mild asymptomatic FEVR

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Familial exudative vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vascular development.
• Mild FEVR cases may present asymptomatically with normal clinical examinations.
• Identifying subtle posterior segment changes is crucial for early diagnosis.

Purpose of the Study:

• To investigate posterior retinal abnormalities in asymptomatic individuals with mild familial exudative vitreoretinopathy (FEVR).
• To compare biometric parameters between FEVR patients and healthy controls.

Main Methods:

• Cross-sectional study of 38 asymptomatic mild FEVR patients and 38 controls.
• Analysis of fundus photographs and fluorescein angiography.
• Measurement of optic disc diameter (DD), disc-to-macula distance (DM), DM/DD ratio, and peripapillary vessel count.

Main Results:

• FEVR eyes showed a smaller optic disc diameter (1605.34 ± 250.60 μm vs. 1733.39 ± 163.79 μm).
• FEVR eyes exhibited a larger disc-to-macula distance (5434.08 ± 824.82 μm vs. 4696.29 ± 257.34 μm) and higher DM/DD ratio (3.49 ± 0.93 vs. 2.73 ± 0.28).
• Increased peripapillary retinal vessels were observed in FEVR patients (24.53 ± 3.10 vs. 21.39 ± 2.65).

Conclusions:

• Asymptomatic mild FEVR (Stage I/II) presents with distinct posterior pole abnormalities.
• These include increased retinal vessels, larger DM, and smaller DD.
• Findings support early FEVR diagnosis, genetic counseling, and timely intervention.