Objective:

To systematically assess corneal sensory nerve function in patients with congenital aniridia and evaluate the impact of age and disease severity on nerve dysfunction.

Approach:

Key Findings:

• Adult patients showed significantly reduced mechanical and cold sensitivity compared to healthy controls.
• Corneal sensory dysfunction worsens with age and severity of aniridia-associated keratopathy (AAK).
• Children with aniridia exhibited only mild impairment, indicating progressive sensory dysfunction over time.
• Reflex tearing was lower in patients, suggesting impaired nociceptor function and reduced lacrimal gland responsiveness.
• Age and AAK severity were identified as the strongest predictors of reduced sensory function.

Interpretation:

Corneal nerve dysfunction in aniridia is progressive and multifactorial, affecting protective reflexes and indicating a need for early clinical intervention.

Limitations:

• Small sample size for the reduced-expression (REX) variant cohort.
• Study primarily focused on sensory function without extensive exploration of other ocular surface parameters.

Conclusion:

Monitoring corneal sensitivity and tearing reserve is crucial for identifying at-risk patients, and early intervention may help delay functional deterioration of corneal sensory innervation.

Attribution Notice

This content is an AI-generated, fully rewritten summary based on a published scholarly article. It does not reproduce the original text and is not a substitute for the original publication. Readers are encouraged to consult the source for full context, data, and methodology.