Keratoconus – A potentially blinding eye disease may be surprisingly common in Down syndrome By Akilesh Gokul
Keratoconus is a potentially blinding disease of the cornea, the clear dome structure at the front of the eye. The cornea is normally spherical in shape, like a soccer ball, but in keratoconus, the cornea thins and bulges, becoming distorted and forming a cone shape (like a traffic cone). The distorted shape of the cornea in keratoconus results in reduced vision and in severe cases can lead to legal blindness. Keratoconus affects approximately 1/2000 of the general population. Research done overseas estimates that between 1/10 and 1/3 individuals with Down syndrome are affected by keratoconus, making it 10 to 600 times more common than in the general population. Unfortunately, there has not been any research done in New Zealand to determine how common keratoconus is in individuals with Down syndrome. Not knowing how common the condition is likely means that many individuals with keratoconus are not receiving the care they require as their health care providers simply do not know that they should be assessed to determine if they have the disease. It is extremely important to detect keratoconus in its earliest stages as there is a potential treatment option available which can prevent the condition from getting worse. The treatment is known as corneal collagen cross-linking. A team of researchers at the University of Auckland, Department of Ophthalmology are looking to address this shortcoming in our knowledge. The team is headed up by Professors Charles McGhee
and Dipika Patel, world renowned researchers in the field of keratoconus, and is rounded out by Drs Samantha Simkin and Akilesh Gokul, Post-Doctoral clinical researchers, and Miss Joyce Mathan, a PhD candidate. A pilot investigation was carried out at the NZ Special Olympics Summer games 2017 as part of the eye health screening program. The results of the pilot investigation suggest that keratoconus may be detected in up to 38.8% (more than a third) of individuals with Down syndrome in New Zealand, however, further research is required. The team are set to begin a group of large interrelated research investigations in late 2018/early 2019. The aim of these investigations will be to: 1. Determine how common keratoconus is in individuals with Down syndrome in New Zealand 2. Determine what effect it has on these individuals’ vision and overall quality of life 3. Address the way keratoconus is treated in these individuals to perverse the highest possible level of vision. Look out for more information on these studies and how to get involved in upcoming editions of CHAT21.
Keratoconus – A potentially blinding eye disease may be surprisingly common in Down syndrome
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