Understanding Keratoconus in Down Syndrome: From Etiology to Management - A Narrative Review

Paediatricians are often the first to identify children with DS and their awareness on associated ocular comorbidities, play a critical role in ensuring timely referral to general ophthalmologists for diagnosis and management. Among these, keratoconus (KC) has a significantly higher prevalence among Down syndrome (DS) compared to the general population. The awareness and understanding of KC, is essential for preventing vision loss. This review summarizes the current understanding of KC in DS, on epidemiology, pathophysiology, diagnostic challenges, and management. The children with DS, have thinner and steeper corneas since birth, complicates the diagnostic and management protocols. Poor cooperation of the children for imaging, compromised scan qualities, need for sedation and repeatability of scans poses diagnostic challenges. Early intervention with corneal cross-linking (CXL) is shown to be effective in halting disease progression. The surgical options in advanced cases, carry higher risks in DS patients due to factors such as eye rubbing, increased infection rates, and challenges in postoperative compliance. Managing KC in DS requires a comprehensive approach involving early referral by Paediatricians, pre-emptive diagnosis, and timely intervention with CXL to prevent disease progression. Future research should focus on preclinical gene prediction and developing standardized screening protocols for KC among DS to prevent vision loss and thereby improve quality of life among them.