Australian geneticist discovers new condition causing blindness

Sydney-based clinical geneticist Professor Robyn Jamieson has discovered a new genetic condition that causes blindness.
 
The autosomal dominant ocular systemic disorder is caused by a variant in the ALPK1 gene.
 
The new condition has been labelled ROSAH syndrome (retinal dystrophy; optic nerve oedema; splenomegaly; anhydrosis; migraine headache). All patients with the ROSAH phenotype also have low-grade ocular inflammation, pancytopaenia and recurrent infections.
 
Professor Robyn Jamieson, who is the head of the Eye Genetics Unit at the Children’s Medical Research Institute at Westmead in Sydney, made this discovery after meeting a family in 2004 whose members were affected by retinal problems.
 
The family consisted of a mother, two of her children, and three of her grandchildren.
 
Professor Jamieson told newsGP she first considered that there could be a genetic cause for the condition as each family member had a ‘constellation of symptoms [that] was quite unusual and included a blinding eye condition, a retinal dystrophy’.
 
Along with the blinding condition, other symptoms included recurrent fever, headaches and splenomegaly.
 
Professor Jamieson worked with researchers from around the world and found the same condition, and genetic variant, in other families.
 
Worldwide, there have now been a total of five unrelated families identified with ROSAH syndrome.
 
Professor Jamieson suspects there could be more people affected.
 
‘It’s possible that there are people out there [who have these features], where two and two haven’t been put together,’ she said. ‘And that’s why we wanted to publish, so that this constellation of features is known to be a “thing”.
 
‘Some of the cases have recurrent headaches or recurrent fevers and some people are thinking, “Does that really relate to the eye thing, or not?”
 
‘So I think there possibly could be more people out there with [ROSAH Syndrome].’
 
Professor Jamieson’s message for GPs is to firstly be aware of these kinds of conditions. She also wants to encourage GPs to refer patients with conditions such as retinal dystrophy to a genetic service, while keeping up with monitoring by their ophthalmologist.
 
Now that the gene for ROSAH syndrome has been identified, Professor Jamieson would like to see the impact on sufferers reduced.
 
‘My hope is that we will find the therapy that will help these families to prevent further vision loss … and help prevent the severity of the infections that they have,’ she said.
 
Professor Jamieson’s findings were published in Genetics in Medicine, the journal of the American College of Medical Genetics and Genomics.

blindness genetic condition ROSAH