Keratoconjunctivitis as a Single Entity in X-linked Agammaglobulinemia?

Area of Science:

• Ophthalmology
• Immunology
• Genetics

Background:

• X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a severe lack of B cells and antibodies.
• Ocular manifestations in XLA are uncommon but can be severe, impacting corneal and conjunctival health.

Observation:

• A 32-year-old male with diagnosed XLA presented with a severe, bilateral corneal immunopathy.
• The condition manifested as chronic progressive corneal scarring, leading to visual acuity loss and phlyctenular keratoconjunctivitis over a nearly 20-year observation period.

Findings:

• Topical corticosteroids (dexamethasone) effectively controlled symptoms and slowed corneal scarring progression in the short term.
• Ciclosporin A eye drops presented adherence challenges for long-term use.
• Antibiotic eye drops provided supportive anti-inflammatory effects, though no specific pathogens were identified.
• Subconjunctival anti-VEGF therapy showed no significant benefit in a single application.
• Artificial tears were essential for basic ocular surface management.

Implications:

• This case highlights the potential for severe ocular complications in patients with XLA.
• Effective management requires a multi-faceted approach, balancing anti-inflammatory therapies with supportive care.
• Further research into long-term, adherence-friendly treatments for ocular immunopathy in XLA is warranted.