Achromatopsia 3

What is Achromatopsia 3?

Achromatopsia 3 is a disorder that affects the patients ability to see color, it is a disorder of the retina. The vast majority have complete achromatopsia. Complete achromatopsia patients are only able to see black, white and shades of gray. They have a total absence of color vision. In a very small minority of patients they have some color sight and are said to have incomplete achromatopsia.

Aproximately 1 in 30,000 people worldwide have Achromatopsia 3. Between 4 and 10 percent of people of Pingelapese islanders have complete achromatopsia.

What are the symptoms of Achromatopsia 3?

Common symptoms of Achromatopsia 3 include the following:

• Cannot perceive any colors
• Light sensitivity
• Cataract
• Severe nearsightedness
• Partial or total blindness without visible change in the eye

What causes Achromatopsia 3?

Achromatopsia results from changes in one of several genes: A change in the genes CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H are responsible for Achromatopsia. The CNGB3 gene in particular is the responsible gene for the condition in Pingelapese islanders. Achromatopsia 3 patients have 2 copies of the gene that are mutated. is inherited in autosomal recessive pattern. The patients parents don’t have the condition, but are considered carries of the condition. The parents each carry one copy of the mutated gene.

How is Achromatopsia 3 diagnosed?

Genetic testing can diagnose the disorder.

What are the treatments for Achromatopsia 3?

There is no treatment for Achromatopsia 3. Darkly tinted lenses are used to treat photophobia. Low vision aids and vocational training should be offered. Periodic eye examinations are critical for children.

Where can I find out more about Achromatopsia 3?

• NIH
• Genetics Home Reference
• Check Orphan