Pattern dystrophy

How is it inherited?

Pattern dystrophies are caused by mutations (or mistakes) in one of several genes, but they are all inherited in an autosomal dominant fashion. That means that someone with a pattern dystrophy has a 50 per cent chance of passing it on to their child, whether they are male or female. The gene is not always ‘expressed’ in the same way, so someone with significant sight loss may have a child with only mild visual impairment. 

What are the symptoms?

The symptoms of pattern dystrophy are similar to age-related macular degeneration (AMD), but tend to be less severe. Despite some blurring of vision and loss of fine detail, people are usually able to drive and read the newspaper. Often, the lipofuscin deposits are picked up during a regular eye test before the patient notices any sight loss.

Although symptoms do get worse, this usually happens very slowly, over 20 to 30 years. Around 15 per cent of people develop new, leaky blood vessels in their eye tissue (like wet AMD ). A similar proportion find that patches of the light-sensing cells in their retina start to die off due to geographic atrophy (also a symptom of dry AMD ). This usually happens in people aged over 60.

Treatment

No treatments currently exist for pattern dystrophy. People who develop wet AMD-type symptoms may be treated with anti-VEGF injections to slow the growth of new blood vessels.

Research

Our understanding of the genetic changes which cause pattern dystrophy is improving every year. Future treatments for AMD and other dystrophies may be effective for pattern dystrophy too.

Last review date: 08 2021
Next review date: 12 2023