Sharon Burstin, 54, of Elsternwick, was told she had a type of inherited retinal disease called retinitis pigmentosa after experiencing vision loss as a child. 

Her search for information as an adult led her to the VENTURE Study into inherited retinal diseases (IRDs) – a joint effort between CERA and the University of Melbourne. 

The study aims to understand the progression of IRDs and identify people who may be eligible for future clinical trials. 

Through VENTURE, Sharon was able to access genetic testing and was diagnosed with adult Refsum disease, a rare metabolic condition that affects about one in a million people. Its progress can be slowed by dietary and lifestyle changes. 

Refsum disease is caused by the build-up of phytanic acid from food in body tissues, including the retina. People with the disease usually develop vision symptoms as a child or teenager. Other symptoms can include loss of smell, sensory and motor issues, deafness, unsteadiness and abnormal joints. 

Sharon says that she had the Refsum symptoms of unusual hands and feet at birth, and gradually developed others such as smell and hearing loss, poor balance, and osteoarthritis – but the puzzle was unsolved until she had genetic testing. 

“As a child and young woman, it was traumatic to know I had a condition where they could not predict the progress, because retinitis pigmentosa is different for everybody, and of course, losing your vision is very frightening,” Sharon says. 

“I tried to get genetic testing for more information, but it was extremely hard to access until I joined the VENTURE Study at CERA – which provided the answer. While Refsum is a difficult condition to manage, I’m relieved I now have something concrete and there are ways to slow the progression.” 

Unique experience 

Sharon’s unique case was outlined by Professor Lauren Ayton AM and Parker Truong in the journal Clinical & Experimental Ophthalmology. 

Professor Ayton says that IRDs were considered untreatable less than a decade ago. 

“However, advances in genomic research means more people can find out what is causing their vision loss, and rapid advances in gene therapy research and other therapies provide hope for new treatments to stall vision loss and restore sight,” Professor Ayton says. 

“For Sharon, genetic testing revealed she had a disease that could be slowed down, but testing is equally important for people with other inherited retinal diseases. 

“The value of genetic testing for patients with rare diseases cannot be overstated.” 

Diet and lifestyle can have a positive impact on managing Refsum disease. 

Sharon, who is now a passionate advocate for Refsum awareness and genetic testing, says she would have lived her life quite differently had she known earlier about her diagnosis. 

“I would never have fasted or dieted to lose weight really quickly, I would not have over-exercised, I would have eaten differently,” she says. 

“I’ve made those changes now, but I am already fully blind in one eye, totally night blind and only have five degrees of peripheral vision in the other eye. 

“It’s important that people have genetic testing through studies, and that ophthalmologists and optometrists are more aware of Refsum disease as there is so much that can be done to slow the progression.” 

This story was originally published in Share our vision: Annual Review 2024.