Concerns and feelings should be discussed with the baby's ocularist, who is used to dealing with concerns about these very important topics. The eye is affected in about one-quarter of all inherited diseases, thus possible genetic causes of eye malformations must be considered. Geneticists use unusua findings in th eye, as well as other findings throughout the body, to help identify possible syndromes or causes of the disorder in an individual. Chromosomes are tiny structures which carry our genetic information and are arranged in 23 pairs in each cell of the body. Each gene has a specific function to encode the directions for the production of proteins in our bodies.
Proteins are elements which do the different jobs our bodies require.
A mutation can lead to either abnormally made proteins or absence of the protein which then afffects the development of the fetus during pregnancy. Single gene disorders occur as a result of a mutation in one gene on one or both of the chromosomes of a pair. This mutation changes the genetic information and therefore the blueprint for development, which leads to disease or birth defects. Chromosomal disorders involve extra, or missing chromosomes or rearranged pieces of chromosomes. This extra or missing information changes the blueprint for development.