Genetic research shows promise for developing a treatment for the rare eye disease Aniridia – Study by UKK

In May 2024, the Restore Vision team participated in the annual meeting of The Association for Research in Vision and Ophthalmology (ARVO) in Seattle, United States. At this prestigious event, Karina Hadrian from our partner institution University of Cologne team presented key findings from their ongoing research on the project via a poster. Below is a summary of the study results shared during the conference. To view and download the full poster, visit our resources page.

Genetic research shows promise for developing a treatment for the rare eye disease Aniridia

Aniridia is a rare eye disease in which the iris (the coloured ring around the pupil) is either malformed or absent, leading to progressively worsening vision with age. This inheritable condition affects up to 1 in 40,000 people.

People with aniridia often experience blurry vision and heightened sensitivity to light. As they age, their vision can deteriorate further due to issues with the cornea and glaucoma, which can eventually lead to blindness in early adulthood.

Congenital aniridia is caused by changes in the Pax6 gene, which plays a key role in the development of the eye. In this study, researchers investigated a specific type of mouse, known as Aey80, that carries a mutation in the Pax6 gene to understand more about how it impacts the development and function of the eyes. These mice exhibit features similar to those seen in human aniridia: their iris shrinks, the space between the cornea and lens becomes shallower, and the corneas show significant variations in thickness.

The study focused on Aey80 mice at various ages – 3, 10, 25, and 45 weeks – to observe how the Pax6 mutation influences eye changes over time. Researchers compared the Aey80 mice with healthy mice of the same ages using optical coherence tomography (OCT), a scanning technique that allowed them to measure corneal thickness, iris size, and the depth of the front part of the eye. They also used a special staining technique to detect the growth of blood vessels and lymphatic vessels into the eyes. Additionally, they measured the intraocular pressure (the pressure inside the eye) using a tool called a tonometer.

Researchers found that the Aey80 mutation causes an eye condition similar to aniridia, which worsens as the mice age. This mutation leads to a reduction in the size of the iris (the coloured part of the eye) and the front portion of the eye. It also causes changes in the thickness of the cornea (the clear outer layer of the eye) and promotes the growth of many lymphatic vessels into the cornea, which normally helps drain fluid.

As a result, the pressure inside the eye increases, leading to the development of cataracts (clouding of the eye lens). Additionally, older mice with this mutation show significant growth of blood vessels into their eyes. These findings highlight the crucial role of the Pax6 gene in maintaining eye health as it develops. Studying these mice provides valuable insights into aniridia and may lead to new treatment options for the condition.

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