From the Research
Causes of Retinitis Pigmentosa with Peripheral Neuropathy
- Retinitis pigmentosa (RP) is a group of inherited disorders that can cause progressive visual loss, and in some cases, it may be associated with peripheral neuropathy [(1,2)].
- The disease can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, and it is characterized by abnormalities of the photoreceptors or the retinal pigment epithelium of the retina 1.
- RP can occur as part of a syndrome, such as Usher syndrome and Bardet-Biedl syndrome, which may also involve peripheral neuropathy [(1,2)].
- Over 40 genes have been associated with RP, and mutations in these genes can lead to retinal degeneration [(1,3)].
- Neuroinflammation is a major hallmark of RP, and it is thought to contribute to the progression of the disease 4.
- In some cases, RP may be associated with neurologic diseases, and a detailed history with pedigree analysis, a complete ocular examination, and paraclinical testing should be performed to diagnose and monitor patients with RP 2.
Genetic Causes
- Mutations in genes such as rhodopsin can cause RP, and these mutations can trigger inflammatory reactions and oxidative stress in the retina [(3,4)].
- High-throughput sequencing technologies, such as next-generation sequencing (NGS), have identified several novel RP genes and mutations 3.
- The genetic heterogeneity of RP makes it challenging to establish genotype-phenotype correlations, and further research is needed to understand the relationship between genetic mutations and disease progression [(1,3)].
Syndromic Causes
- RP can occur as part of a larger syndrome, such as Usher syndrome and Bardet-Biedl syndrome, which may also involve peripheral neuropathy and other systemic diseases [(1,5,2)].
- These syndromes are often characterized by a combination of retinal degeneration, hearing loss, and other systemic features [(1,2)].