Moorfields genetics specialists help identify new gene causing achromatopsia

An international research team including Moorfields consultants Professors Michel Michaelides and Andrew Webster have discovered a new gene that underlies achromatopsia –a rare inherited eye disorder causing childhood-onset blindness.

According to the study, the results of which are published in the journal Nature Genetics online this week (June 1), there is a fault in the ATF6 gene which plays a major role in this disorder. Five other genes had previously been identified as causing achromatopsia, but the fact that families remain for whom these genes do not account for their condition led researchers to believe there must be other genes yet to be identified.

Commenting on the significance of the genetic breakthrough, Professor Michaelides, said: “This study advances our understanding of the underlying molecular genetic basis of achromatopsia and sheds light on macular developmental biology.”

People with achromatopsia see the world only in black and white and their extreme sensitivity to light makes them nearly blind in bright sunlight. It affects an estimated one in 30,000 people worldwide. There is currently no effective treatment for the disease, which appears in infancy, although a gene therapy trial at Moorfields and the UCL Institute of Ophthalmology funded by the Medical Research Council is planned in the near future for one genetic form of achromatopsia. Ophthalmologists prescribe specially-filtered dark glasses or red-tinted contact lenses to reduce light sensitivity with the intention of improving comfort and visual acuity.

In this study, the scientists looked at 18 achromatopsia patients from 10 different families who had been identified as lacking genetic faults in the five previously known genes. All 18 were found to harbour faults in the ATF6 gene.

The inherited retinal disease specialists involved in this study were from hospitals and universities in America, Canada, Germany, the Netherlands, Italy and England, and found that faults in the ATF6 gene damaged proteins necessary for the proper function of the eye’s cone photoreceptors. The eye has millions of these receptors located in the retina (the light sensitive layer at the back of the eye), which detect light and provide detailed central daytime vision and colour recognition.   

In achromatopsia, malfunction of the cone photoreceptors causes sufferers to be either totally or predominantly colour blind and severely visually impaired from birth or early infancy.

The paper is called Mutations in the Unfolded Protein Response Regulator, ATF6, Cause the Cone Dysfunction Syndrome Achromatopsia.

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Notes to editors

NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology was established in April 2007 and awarded a second five-year term by the NIHR from April 2012.  Its purpose is to conduct 'translational research' that is designed to take advances in basic medical research from the laboratory to the clinic, enabling patients to benefit more quickly from new scientific breakthroughs.  Our centre is currently one of 11 biomedical research centres that were awarded in 2012 to NHS/university partnerships with an outstanding international reputation for medical research and expertise, and experience of translating that research into the clinical setting.  For further information, please visit www.brcophthalmology.org. 

Moorfields Eye Hospital NHS Foundation Trust is one of the world’s leading eye hospitals, providing expertise in clinical care, research and education.  We have provided excellence in eye care for more than 200 years and we continue to be at the forefront of new breakthroughs and developments.  We are an integral part of one of the UK’s first academic health science centres, UCL Partners, and now we are part of one of the first science health networks. We were one of the first organisations to become an NHS foundation trust in 2004.  For further information, please visit www.moorfields.nhs.uk.

UCL Institute of Ophthalmology is one of a number of specialised research centres within UCL (University College London) and is, together with Moorfields Eye Hospital, one of the leading centres for eye research worldwide. The combination of the Institute’s research resource with the resources of Moorfields Eye Hospital, which has the largest ophthalmic patient population in the Western World, opens the way for advances at the forefront of vision research.  For further information, please visit www.ucl.ac.uk.

About the NIHR The National Institute for Health Research (NIHR) is funded by the Department of Health to improve the health and wealth of the nation through research. Since its establishment in April 2006, the NIHR has transformed research in the NHS. It has increased the volume of applied health research for the benefit of patients and the public, driven faster translation of basic science discoveries into tangible benefits for patients and the economy, and developed and supported the people who conduct and contribute to applied health research. The NIHR plays a key role in the Government’s strategy for economic growth, attracting investment by the life-sciences industries through its world-class infrastructure for health research. Together, the NIHR people, programmes, centres of excellence, and systems represent the most integrated health research system in the world. For further information, visit the NIHR website www.nihr.ac.uk