Ocular involvement in monogenic autoinflammatory disease.

Area of Science:

• Ophthalmology
• Genetics
• Rheumatology

Background:

• Monogenic Autoinflammatory Diseases (AIDs) are rare hereditary disorders.
• Ocular manifestations in AIDs are not well-characterized.
• Understanding these ocular findings is crucial for patient management.

Purpose of the Study:

• To systematically review and characterize ocular findings in various Monogenic Autoinflammatory Diseases (AIDs).
• To consolidate current knowledge on the spectrum of eye involvement in these rare genetic conditions.

Main Methods:

• A systematic literature review was performed using two electronic databases.
• PRISMA guidelines were followed for study selection and data extraction.
• Articles were screened by two independent reviewers, focusing on ocular findings in AIDs.

Main Results:

• 198 papers involving 1353 patients were analyzed across multiple AIDs.
• Specific ocular findings included conjunctivitis (CAPS), uveitis (Blau, MKD, HA20, CANDLE), papillitis/papilledema (CAPS), optic neuritis (Aicardi, DADA2), retinal vasculitis (FMF), and retinitis (SIFD).
• Granulomatous uveitis was more frequent in Blau syndrome.

Conclusions:

• This review provides a comprehensive overview of ocular involvement in several AIDs.
• The findings highlight the need for timely ophthalmological screening in patients with AIDs.
• Early detection and management of ocular complications can improve patient outcomes.