Study finds genetic collagen link to serious eye disease

Sunday, January 20, 2013

Sydney: A major national and international genetic eye disease research project led by Australian researchers has identified a family of genes related to collagen that influence corneal thickness and disease risk. The cornea is the transparent outer covering of the eye.

David Mackey

David Mackey, managing director and chair of The University of Western Australia (UWA) Ophthalmology, says the finding is significant because a thin cornea is one of the risk factors for keratoconus as well as glaucoma, the second leading cause of blindness overall in Australia.

Keratoconus is a thinning of the central zone of the cornea, causing the normally round shape of the cornea to become distorted and a cone-like bulge to develop, resulting in significant visual impairment.

“Keratoconus is a leading cause of severe visual impairment in young adults and the main indication for corneal transplant in most developed countries, including Australia,” Mackey says.

“A combination of these gene variants can result in a person having a thinner cornea and much greater risk of developing eye diseases.”

Mackey says while earlier, smaller studies had identified some genes for corneal thickness variation, the study published in the journal Nature Genetics combined data from 20,000 people in Australia, Europe, North America and Asia in the largest analysis to date.

“These findings allow researchers to now target specific gene pathways involving collagen to help prevent and treat keratoconus and glaucoma,” Mackey says.

Categories: Ophthalmology, RESEARCH

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