Long-term efficacy of AAV5-based gene therapy   to treat day blind sheep with achromatopsia
(Mary Ann Liebert, Inc./Genetic Engineering News) A study of a large animal model of achromatopsia caused by a mutation in the CNGA3 gene that was treated with a single injection of CNGA3 gene therapy delivered using an AAV5 vector revealed findings reported long-term follow-up findings that show promise for the efficacy and safety of this therapeutic approach. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 15, 2018 Category: International Medicine & Public Health Source Type: news

Sanne de Wilde's best photograph: the island of the colour blind
‘It’s the most colour-blind place on Earth. I had to take four flights to get there. I wanted to celebrate their unique way of seeing the world’I shot this image of Deke, one of the smaller islands of the Pingelap atoll, in the Federated States ofMicronesia, in 2015. I had travelled to the atoll to research achromatopsia, a rare genetic condition that causes complete colour blindness and hypersensitivity to light. In severe cases, all you can see is shades of grey. Worldwide, only one in every 30,000 people have achromatopsia. But on Pingelap, one in 10 do. It ’s the most colour-blind place on Earth...
Source: Guardian Unlimited Science - June 6, 2018 Category: Science Authors: Interview by Edward Siddons Tags: Photography Art and design Culture Micronesia Asia Pacific World news Blindness and visual impairment Health Society Genetics Disability Science Art and design books Source Type: news

Medical News Today: Cure for rare form of color blindness steps closer with novel gene insight
By analyzing the genes of dogs, researchers have uncovered new insight into the mechanisms underlying a rare form of color blindness called achromatopsia. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - October 5, 2015 Category: Consumer Health News Tags: Eye Health / Blindness Source Type: news

Genetic mutations linked to a form of blindness
Scientists have identified two naturally occurring genetic mutations in dogs that result in achromatopsia, a form of blindness. One of the most promising avenues for developing a cure, however, is through gene therapy, and to create those therapies requires animal models of disease that closely replicate the human condition. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - October 1, 2015 Category: Science Source Type: news

Become Who You Are: The World's First Legally Recognized Cyborg May Be Onto Something
Bodies are imperfect. Every combination of flesh, nerves, bones and blood has its particularities and limitations, some of which restrict the experience of its owner more severely than others. For issues that threaten our safety and survival, technology offers a helping hand. Glasses improve vision. Crutches, wheelchairs and prosthetics help with movement. For those with abnormal heart rhythms, there are pacemakers.  But what about the less dire limitations, for example, those that affect your aesthetic perception? How would your life be different if you couldn't see color, if the range of your vision was limited to v...
Source: Science - The Huffington Post - July 20, 2015 Category: Science Source Type: news

A world without color -- researchers find gene mutation that strips color, reduces vision
(University of California - San Diego) 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. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 1, 2015 Category: Global & Universal Source Type: news

Genetics Home Reference: achromatopsia
http://ghr.nlm.nih.gov/condition/achromatopsia (Source: NLM General Announcements)
Source: NLM General Announcements - January 27, 2015 Category: Databases & Libraries Source Type: news

Combination Therapy Could Be Key In Treating Blindness
Researchers have discovered that using two kinds of therapy in tandem may be a knockout combo against inherited disorders that cause blindness. While their study focused on man's best friend, the treatment could help restore vision in people, too. Published in the journal Molecular Therapy, the study builds on earlier work by Michigan State University veterinary ophthalmologist András Komáromy and colleagues. In 2010, they restored day vision in dogs suffering from achromatopsia, an inherited form of total color blindness, by replacing the mutant gene associated with the condition... (Source: He...
Source: Health News from Medical News Today - April 11, 2013 Category: Consumer Health News Tags: Eye Health / Blindness Source Type: news