To understand how RP is inherited, itís important to know a little more about genes and how they are passed from parent to child. Genes are bundled together on structures called chromosomes. Each cell in your body contains 23 pairs of chromosomes. One copy of each chromosome is passed by a parent at conception through egg and sperm cells. The X and Y chromosomes, known as sex chromosomes, determine whether a person is born female (XX) or male (XY). The 22 other paired chromosomes, called autosomes, contain the vast majority of genes that determine non-sex traits. RP can be inherited in one of three ways:
Autosomal recessive Inheritance
In autosomal recessive inheritance, it takes two copies of the mutant gene to give rise to the disorder. An individual with a recessive gene mutation is known as a carrier. When two carriers have a child, there is a:
- 1 in 4 chance the child will have the disorder
- 1 in 2 chance the child will be a carrier
- 1 in 4 chance the child will neither have the disorder nor be a carrier
Autosomal dominant Inheritance
In this inheritance pattern, it takes just one copy of the gene with a disorder-causing mutation to bring about the disorder. When a parent has a dominant gene mutation, there is a 1 in 2 chance that any children will inherit this mutation and the disorder.
X-linked Inheritance
In this form of inheritance, mothers carry the mutated gene on one of their X chromosomes and pass it to their sons. Because females have two X chromosomes, the effect of a mutation on one X chromosome is offset by the normal gene on the other X chromosome. If a mother is a carrier of an X-linked disorder there is a:
- 1 in 2 chance of having a son with the disorder
- 1 in 2 chance of having a daughter who is a carrier
https://nei.nih.gov/health/pigmentosa/pigmentosa_facts