Volume: 3, 2024
3rd International PhD Student’s Conference at the University of Life Sciences in Lublin, Poland:
ENVIRONMENT – PLANT – ANIMAL – PRODUCT
Abstract number: H004
DOI: https://doi.org/10.24326/ICDSUPL3.H004
Published online: 24 April 2024
ICDSUPL, 3, H004 (2024)
Retinitis pigmentosa – Next Generation Sequencing as a diagnostic tool in rare diseases
Zuzanna Guzowicz1*, Monika Cendrowska-Pinkosz2, Katarzyna Ognik3
1 Human Anatomy Research Group, Medical University of Lublin, K. Jaczewskiego 4, 20-090 Lublin, Poland
2 Chair and Department of Human Anatomy, Medical University of Lublin, K. Jaczewskiego 4, 20-090 Lublin, Poland
3 Department of Biochemistry and Toxicology, Faculty of Animal Sciences and Bioeconomy, University of Life Sciences in Lublin, Akademicka 13, 20-950 Lublin, Poland
* Corresponding author: zguzowicz@gmail.com
Abstract
Retinitis pigmentosa (RP) is an inherited retinal dystrophy with neurodegenerative background. RP affects 1 in 3000–7000 people and may commence in patients as young as 2 years old. RP displays a variety of retinal phenotypes. RP can also manifest with extra-ocular symptoms, which occurs in 20–30% of all cases. Patients with RP have a complex genetic background. Next generation sequencing (NGS) provides a novel, detailed approach to molecular diagnostics. In this study, we discuss the appliance of NGS technologies in diagnostics of RP. We searched the available databases with scientific publications (PubMed, Google Scholar, etc.) for articles containing information about „Retinitis pigmentosa”, „Next-generation sequencing” and „Molecular diagnostics”. We summarized the information in a form of systematic review. RP displays various patterns of inheritance. Depending on the molecular variant, RP can be autosomal recessive or dominant, X-linked, mitochondrial, or result from another genetic condition. The most common genes involved in RP are rhodopsin (RHO), pre-mRNA processing factor 31 gene (PRPF31), as well as retinal degeneration slow gene (RDS) and nearly 80 other genes whose mutation lead to developing RP. Notably, autosomal RP is the least severe form, while X-linked RP is the most severe. Diagnostic procedure of RP consists of medical interview, detailed dilated-pupil ophthalmologic examinations and molecular tests. A detailed insight in a patient’s genetic background can be achieved through next-generation sequencing (NGS), namely whole-exome sequencing (WES) and whole-genome sequencing (WGS) and targeted gene sequencing. Currently, there is no standard therapeutic approach for RP. Data from various clinical research present a broad spectrum of therapies such as stem cell therapy, retinal implants, neuromodulatory agents, and nutritional-based approaches. The complexity of RP calls for a multidisciplinary approach in diagnostic and treatment of patients. Confirming the clinical and genetic features of the patients is a crucial, first step of disease management. Despite the detailed knowledge on RP, it still needs to be investigated and further characterized to ensure efficient diagnostics and personalized treatment.
Keywords: retinitis pigmentosa, ophthalmology, next generation sequencing
How to cite
Z. Guzowicz, M. Cendrowska-Pinkosz, K. Ognik, 2024. Retinitis pigmentosa – Next Generation Sequencing as a diagnostic tool in rare diseases. In: 3rd International PhD Student’s Conference at the University of Life Sciences in Lublin, Poland: Environment – Plant – Animal – Product. https://doi.org/10.24326/ICDSUPL3.H004