Insights Into Refractive Error From Genetic Associations With Macular Curvature

Brief plain language background 

Short-sightedness (myopia) is a common condition that affects a person’s ability to see objects far away clearly. It is a leading cause of irreversible visual impairment. 

Approximately 1 in 3 people in the UK have myopia. The condition also increases the risk of developing some serious eye conditions, such as retinal detachment – where the light-sensitive tissue at the back of the eye is pulled away from its normal position – or myopic macular degeneration, which is a loss of light-sensing cells. 

What problem/knowledge gap does it help address 

A combination of genetics and lifestyle factors – such as time spent outdoors, and years spent in education – can affect the risk of developing myopia. 

Much work has been carried out to understand the genetic basis of the disease, with many of the identified genes influencing the size and shape of the eye. 

However, it is less understood why some people with myopia develop more severe forms, suggesting there may be additional unknown genes that increase the severity of myopia and the risk of macula problems. 

The curvature of the macula, the centre of the retina that senses detail and colour, can be affected as the eye takes on an abnormal shape in myopia. The genetics of macular curvature variation could be a proxy for myopia. 

Aim of the project 

To explore the genetic basis of variations in the curvature of the macula. 

Potential impact on people with sight loss 

Knowing which genes and biological pathways are important in the development of high and pathologic myopia could lead to new treatments and enhanced prediction. With that, and earlier detection, measures to prevent progression to pathologic myopia could be implemented. This would ultimately improve individuals’ quality of life and societal productivity.