Phenotypic and Genotypic associations in Anirida Related Keratopathy
Research type
Research Study
Full title
Observational cross-sectional study to characterise the ocular surface in patients with congenital aniridia and correlate this to their genotype.
IRAS ID
280723
Contact name
Sajjad Ahmad
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
2 years, 0 months, 6 days
Research summary
Aniridia is a rare genetic eye condition, which affects the amount of iris tissue present in the eye. It is present from birth and affects other structures of the eye as well. Aniridia related keratopathy (ARK) is a complication of the eye condition aniridia. The word ‘keratopathy’ means unhealthy cornea. In ARK, there is a problem with the limbal stem cells which surround the edge of the cornea. Normally these cells act to keep the cornea healthy and clear by producing new cells to replace old cells on the surface of the cornea. However, in ARK, the limbal stem cells do not make enough new cornea cells. For some, ARK will result in formation of a ring of cloudy tissue around the edge of the cornea, not affecting their vision. However, for others it can progress and move inwards towards the centre of the eye, making it hard for them to see.
We currently do not know which patients with aniridia will develop corneal changes and ARK. There are several different versions of the faulty PAX6 gene that can cause aniridia. We think that certain versions of the gene will make you more likely to develop ARK.We are aiming to take detailed images and perform superficial tissue sampling of the ocular surface of patients with aniridia. We will then link this to their version of the PAX6 gene. The study requires one patient visit with no follow-up necessary. This will help us to understand more about which versions of the PAX6 gene make one more likely to develop ARK and accordingly allow us to better council patients with aniridia about the likelihood of them developing corneal changes and monitor/manage those more at risk.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
20/YH/0219
Date of REC Opinion
28 Aug 2020
REC opinion
Further Information Favourable Opinion