Achromatopsia Report
Achromatopsia
Achromatopsia is determined by genetic defects affecting the phototransduction process, i.e. the transmission of light signals from the retina to the brain, which will process them. In this condition, the phototransduction by the cones (deputies for daytime vision and color perception) is compromised due to genetic mutations, resulting in the inability to perceive colors
More than 8 genes analyzed
It is recommended if:
This report is indicated for those with a family history of the condition or who exhibit the signs of achromatopsia, such as loss of color vision, photophobia, and reduced visual acuity. Genetic testing can confirm the diagnosis by determining the underlying genetic mutations.
List of main conditions:
- Achromatopsia
Simple workflow
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