“…should we institute collagen cross-linking on a routine basis, which would eliminate the need for multiple examinations under anaesthesia, anaesthesia for surgery and anaesthesia for suture removal, as well as anaesthesia for the follow up treatment of a corneal transplant…?” 1
This question was raised in an invited commentary to a multi-centre study which identified that keratoconus may affect 71% of individuals with Down syndrome2. To the best of our knowledge, this is the highest estimate to date and is among the first of its kind to utilise Scheimpflug corneal imaging.
Keratoconus is a chronic, progressive disease of the cornea characterised by thinning, biomechanical weakness and corneal protrusion. It is thought to affect 0.05% of the general population. Advanced stages, which require intervention by corneal transplantation may be avoided through early treatment with corneal collagen cross-linking. Early treatment may be achieved through early detection, which is particularly important among groups at risk of keratoconus development, such as patients with Down syndrome.
Down syndrome is caused by a full or partial trisomy of chromosome 21. Studies indicate that individuals with Down syndrome have risk factors including steeper, thinner and biomechanically weaker corneas compared to the general population. Additionally, studies suggest corneal hydrops is more common in people with Down syndrome than the general population with keratoconus.
A pilot study by our team at the Special Olympics, detected keratoconus in approximately one-third of athletes with Down syndrome. To address the need for early detection and treatment in this vulnerable group, we are launching the KinD21 project: a large, population-based screening and treatment initiative for keratoconus in Down syndrome.
