Retinal findings in glomerulonephritis

Area of Science:

• Immunology
• Ophthalmology
• Nephrology

Background:

• The complement system, integral to innate immunity, comprises classical, lectin, and alternative pathways.
• Dense deposit disease (DDD) involves complement factor H mutations and alternative pathway overactivity, causing glomerulonephritis and retinal abnormalities.
• Retinal abnormalities, including drusen, are observed in DDD and other glomerulonephritides linked to complement pathway dysregulation.

Purpose of the Study:

• To review retinal abnormalities associated with glomerulonephritis across all three complement activation pathways.
• To discuss the reclassification of DDD as C3 glomerulonephropathy and its implications for retinal manifestations.
• To present the first report of drusen in a patient with C3 glomerulonephritis and a specific complement factor H variant.

Main Methods:

• Literature review of complement system pathways and associated renal and retinal diseases.
• Discussion of C3 glomerulonephropathy classification and pathogenic mechanisms.
• Case report of a patient with C3 glomerulonephritis and homozygous complement factor H variant V62I.

Main Results:

• Drusen and other retinal abnormalities occur in glomerulonephritis involving all three complement pathways, with varying onset, etiology, and visual threat.
• DDD is reclassified as a form of C3 glomerulonephropathy.
• A patient with C3 glomerulonephritis and a homozygous complement factor H variant V62I presented with retinal drusen.

Conclusions:

• Complement pathway dysregulation significantly impacts both renal and ocular health.
• Understanding these links is crucial for diagnosing and managing patients with glomerulonephritis and associated retinal conditions.
• Optometric management and complement-based therapies offer potential strategies for visual preservation.