Retinitis pigmentosa (RP) is a genetically heterogeneous disorder caused by mutations in various genes. To address the challenges in diagnosing RP, our company invests in advanced technologies and skilled professionals, dedicated to the development of IVD solutions. Our innovative diagnostic kits and equipment will significantly enhance the sensitivity, specificity, and stability of testing.

Introduction to Retinitis Pigmentosa

Retinitis pigmentosa (RP) comprises a set of hereditary eye disorders that predominantly impact the retina, the light-sensitive tissue located at the rear of the eye. This ailment causes gradual vision deterioration and can ultimately culminate in blindness. RP is characterized by various genetic mutations that disrupt the function of the photoreceptor cells in the retina, specifically rods and cones, essential for vision in low light and bright conditions, respectively. On a global scale, RP is approximated to impact around 1 in 3,000 to 1 in 4,000 people.

Fig. 1 Three prevalent forms of cell demise in retinitis pigmentosa (RP). (Liu W, et al., 2022)

Pathogenesis of Retinitis Pigmentosa

The pathogenesis of retinitis pigmentosa (RP) encompasses genetic mutations that disrupt the typical function of retinal cells. These mutations can result in the deterioration of photoreceptor cells, triggering a progressive vision decline.

Research has identified multiple genes associated with RP, including those encoding proteins crucial for photoreceptor cell function and survival. Mutations in these genes interfere with the complex mechanisms responsible for converting light into electrical signals that the brain interprets as vision. Understanding these genetic abnormalities is essential for accurate diagnosis and developing targeted therapeutics for RP.

Genetic Testing for Retinitis Pigmentosa

Genetic testing plays a vital role in the diagnosis of retinitis pigmentosa (RP). Genetic testing for RP involves analyzing genes associated with the disease to identify the specific mutations that cause the disease. Genetic testing can not only validate the diagnosis but also guide individualized therapeutic strategies to improve the effective management of RP.

Related Genes

• RHO
• RPGR
• USH2A
• PRPF31
• PDE6B

• CRB1
• RP1
• CNGA1
• AIPL1
• And More

Detection Methods

• PCR-based Detection
• Sanger Sequencing
• Next-Generation Sequencing (NGS)
• Whole Exome Sequencing (WES)
• Whole Genome Sequencing (WGS)

Our Services

There exist numerous gaps in in vitro diagnostics (IVD) for retinitis pigmentosa (RP). Our company leads the way in the development of genetic disease diagnostics, offering comprehensive IVD solutions for genetic conditions like RP. Our scientists conduct in-depth research on the pathogenesis of RP to develop accurate and reliable gene detection kits. In conjunction with diagnostic equipment, efficient and automated diagnosis of RP can be achieved to promote effective RP management.

Workflow of IVD Reagent/Kit Development

IVD Device Development Services

• Preparation of Device Development Plan
• Prototype Design Service
• Styling Machine Development Service
• Device Verification and Optimization Service

Additionally, our services include point-of-care diagnostics and companion diagnostics development tailored for retinitis pigmentosa (RP). These offerings are instrumental in facilitating rapid detection and precision therapies of diseases. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.