Australian doctors have discovered an extremely rare disease that gradually blinds families across the globe – and scientists are looking for a solution.
Professor Robin Jamison, head of the eye genetics department at the Children’s Medical Research Institute in Westmead, Sydney, made a revolutionary discovery after four years of work.
The first signs of this disease were found in Australia, when in 2014 Beth White began visiting Dr. Jameson, complaining of loss of vision. After a few years, the three children of White began to appear similar symptoms.
All four experienced a series of strange, but, as it seemed earlier, unrelated symptoms, from fever and recurrent headaches to an abnormally large spleen.
It looks like a sick retina
A new study reveals the common features of White’s disease with similar stories from four other families around the world, and also identifies a genetic cause.
The problem was found in the ALPK1 gene, and the open disease was called ROSAH syndrome. The disease causes retinopathy (retinal damage), optic nerve edema (edema), splenomegaly (spleen edema), anhidrosis (inability to sweat normally) and headaches.
The main task that scientists now face is to understand how ROSAH works and stop it. One suggestion: this anomaly in the gene somehow interferes with the natural progression of the cell cycle, the way in which cells are duplicated and transmit their DNA coding.
The method of treatment is unlikely to be found in the near future, but identifying the root causes of the disease is already a huge step – especially for Beth White, who began to lose her eyesight as a teenager, and finally now understood why.
Source: Science Alert