Inheritance: Several different inherited retinal problems can cause retinitis pigmentosa (RP). In most cases, the disorder is caused by a recessive gene. This means that an abnormal gene must be inherited from both parents.
Some cases have also been linked to genetic mutations on the X chromosome.
Other cases are caused by a dominant gene, which means that people develop the disorder if they inherit the mutated gene from just one parent. For example, an estimated 30% of autosomal dominant cases occur when there is a mutation in the gene that codes for rhodopsin, a pigment in the retina that is needed for vision. When the gene is mutated, rhodopsin does not form properly, and photoreceptor cells die.
Currently, genetic testing is available for several genetic mutations, including RLBP1, RP1, RHO, RDS, PRPF8, PRPF3, CRB1, ABCA4, and RPE65.
Random occurrence: Some patients have no family history of the disease. In such cases, the genetic mutation may occur randomly during the development of the egg, sperm, or embryo.
Other syndromes: Other cases may occur as part of other genetic disorders, such as Bassen-Kornzweig disease, Kearns-Sayre syndrome, Waardenburg syndrome, Alport syndrome, or Refsum disease.
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