What is the cause of Achromatopsia?
The body has a ‘built-in’ plan to make sure all the parts of the body work correctly. This plan is written in our genes. Genes are a chemical alphabet stored in the body. Every person has two copies of each gene. If both copies of a gene have a misprint in the chemical alphabet then a small part of the body may not work correctly. A child with Achromatopsia has inherited a copy of the same gene from each parent with a misprint and the wrong plan for making cone photoreceptors. This means that when a child is born the cone photoreceptors do not work. Most cases of Achromatopsia occur by chance however occasionally the condition can occur as a result of the parents of a child being cousins or even a more distant relative. This is called ‘recessive inheritance’. This is only a brief summary of the genetics of Achromatopsia. There are exceptions to these general rules. This is why it is important that families with a child affected by Achromatopsia receive counselling from a specialist in
