(June 1, 2015) People
with achromatopsia, an inherited eye disorder, see the world literally in black
and white. Worse yet, their extreme
sensitivity to light makes them nearly blind in bright sunlight. Now,
researchers at University of California, San Diego School of Medicine and
Shiley Eye Institute at UC San Diego Health System have identified a previously
unknown gene mutation that underlies this disorder.
The study published online June 1 in the journal Nature
Genetics.
“There are whole families with this sort of vision problem
all over the world,” said Jonathan Lin, MD, PhD, senior study author and an
associate professor in the UC San Diego School of Medicine Department of
Pathology. “We’re very excited to have discovered a mutation in the ATF6 gene
which plays a major role in this disorder.”