Gene discovery a breakthrough in achromatopsia understanding

A research team which included two consultants from Moorfields have discovered a new gene which they believe underlies achromatopsia – a rare inherited eye disorder causing childhood-onset blindness.

Professors Michel Michaelides and Andrew Webster, alongside the rest of the research team, discovered a fault in the ATF6 gene which plays a significant role in the disorder. Five other genes had previously been identified as causing achromatopsia, but the fact that families remained for whom these genes did not account for their condition led researchers to believe there must be other genes yet to be identified.

In achromatopsia, malfunction of the cone photoreceptors causes sufferers to be either totally or predominantly colour blind and severely visually impaired from birth or infancy. Sufferers are prescribed specially-filtered dark lenses or red-tinted contact lenses to reduce light sensitivity with the intention of improving comfort and visual acuity.