This paper aims to solve the problem that achromatopsia cannot distinguish or perceive the energy of different colours. The problem of the previous study was to focus on the sound transforming into ...

Aims To determine long-term safety and efficacy outcomes of a subretinal gene therapy for CNGA3-associated achromatopsia. We present data from an open-label, nonrandomised controlled trial ...

Kiwi bestselling author Steffanie Holmes, whose new book, Fangs for Nothing, is out now. As a child, Steffanie Holmes was “always writing novels”. Now 40, she’s since published more than 40 ...

Complete achromatopsia is inherited as an autosomal recessive trait, whereas an even rarer (less than one instance per 100,000 individuals) form of partial achromatopsia called blue cone ...

Of note, the only gene known to cause autosomal recessive cone dystrophy, however rarely, is the CNGA3 gene, the same gene typically responsible for type II achromatopsia, a non-progressive ...