SNP Shot: Genomic Insights

Achromatopsia is a visual disorder defined by the lack of, or severely limited, ability to see colors. Those with complete achromatopsia experience the world in shades of gray, perceiving only black, white, and gray. A less severe form, incomplete achromatopsia, permits some degree of color differentiation.

Beyond colorblindness, achromatopsia presents additional visual challenges. These include extreme light sensitivity and glare (photophobia), involuntary, repetitive eye movements (nystagmus), and substantially reduced visual clarity (low visual acuity). Individuals with achromatopsia may also experience farsightedness (hyperopia) or, less frequently, nearsightedness (myopia). These vision issues typically appear within the first months of life.

Achromatopsia is distinct from more prevalent types of color vision deficiency (often referred to as color blindness), where individuals can see colors but struggle to differentiate between specific hues, such as red and green.

Inheritance:

Achromatopsia follows an autosomal recessive inheritance pattern. This means that both copies of the relevant gene within each cell must contain mutations for the condition to manifest. While each parent of an affected individual carries one copy of the mutated gene, they generally do not exhibit any symptoms of the disorder themselves.