According to the NIH genetic inheritance reference and OMIM, the mode of inheritance is autosomal dominant or recessive inheritance pattern.
An attempt to discover the gene that is responsible for retinitis pigmentosa was made in the 1970s, which the discovered gene was named to be RP1. more concrete evidence that the gene causes the disease was made in 1999, where two different research confirmed the gene on chromosome 8. For a disease that we are studying, the mutation was first found in a large Irish family in 1989. The RHO gene was discovered in 1992, in a study that studied 12 families that had retinitis pigmentosa. In the 1989 paper, the researchers attempted to identify the mutation through linkage study with a gene in chromosome 3. In 1990, a paper established that the mutation is in pro23 to His mutation in the RHO gene. In 1992, another paper established that retinitis pigmentosa can also be caused by an arg207 to met mutation In RHO gene. So far, there have been 9 mutations in the RHO genes that cause retinitis pigmentosa.
The mutation that we are specifically studying is related to the mutation in the gene that codes for the RHO protein (3q22.1). However, there are other mutations that are associated with the disease, such as in the gene coding for RPGR, (xp11.4), CRB1 (1q31.3), and IDH3B(20p13).
No, because retinitis pigmentosa can be caused by multiple genes, and many of the symptoms are similar and cannot be distinguished clinically. Because of this, there is no clear cut association between the genotype and phenotype.
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