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Researchers test drugs with potential to restore sight loss from aniridia

December 6th, 2019 Róisín Treacy
Fight for Sight is funding scientists from the University of Aberdeen to test two repurposed drugs for the treatment of the rare eye condition aniridia, which causes blindness.

The team will determine whether administering either of the drugs by mouth or in eye drop form can restore levels of a vital protein to normal levels. If successful the study could lead to future trials to test whether the drugs can reverse symptoms in adults, or even prevent them from occurring in children.

Aniridia is caused by a faulty gene (PAX6) which means a vital protein necessary for sight is not produced. The two drugs have already been shown to restore levels of this protein when tested on human stem cells in the lab.
As the drugs are repurposed, they have already been approved or trialled for human use for other conditions, which would mean a much faster process to take the new treatment to patients.

Professor Jon Collinson from the University of Aberdeen said: "We already know that these drugs are safe. The question is now whether giving these drugs to patients with sight loss or restriction due to the faulty PAX6 gene can significantly improve vision and the quality of their lives. This project will hopefully confirm the potential of these drugs to be effective in living cells. An exciting aspect of the project is the potential to treat all patients irrespective of the particular mutation they carry, and the potential to develop a future drug regime that could treat babies before or after birth and prevent eye defects from forming."

Head of Research at Fight for Sight, Dr Rubina Ahmed said: "We are pleased to fund this valuable piece of research that we hope will, if successful, lead to a new treatment for aniridia. Aniridia can have a devastating impact on the vision and lives of patients with the condition, so we look forward to seeing the results of Professor Collinson's research."

Aniridia is a rare eye condition in which the coloured part of the eye (the iris) does not fully develop and there are other associated eye problems. Aniridia occurs in people who have inherited or developed a faulty version of the eye gene PAX6. Symptoms include absence of the iris, a high risk of lens cataracts, and a progressive deterioration of the front surface of the eye, the cornea. The corneal degeneration usually gets worse as people get older and can leave them registered blind. Clinically, it is very difficult to treat, and there is no known cure yet.

More information:
About Fight for Sight
Fight for Sight is the leading UK charity dedicated to funding pioneering research to prevent sight loss and treat eye disease.
The charity currently invests over £8m in 160 research projects at 49 different universities and hospitals across the UK.
The organisation’s research covers both common and rare eye diseases and conditions including age-related macular degeneration, glaucoma, inherited eye diseases and those linked to other conditions like stroke and diabetes.
Over the course of Fight for Sight’s history the charity’s achievements include:
• the creation of the corneal transplant service
• new treatments to save the sight of premature babies
• research leading to the world’s first clinical trial of gene therapy treatments for choroideremia, an inherited condition that causes blindness in men
• the design of a new eye test that can detect the early stages of sight loss in age-related macular degeneration
• the identification of new genes responsible for glaucoma, retinitis pigmentosa, keratoconus and other corneal disorders
• supporting the development of Peek, a Portable Eye Examination Kit that uses a unique smartphone-based system for eye testing anywhere in the world

Fight for Sight social media:
Instagram: @fightforsighuk

Róisín Treacy, Media and Communications Officer, Direct line: 020 3828 2936; E-mail:

Alice Mitchell, Senior Media and Communications Officer; Direct line: 020 7264 3917; Mobile: 07983 973 728; E-mail:

Provided by Fight for Sight

Citation: Researchers test drugs with potential to restore sight loss from aniridia (2019, December 6) retrieved 2 July 2022 from
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