Background: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders characterized by progressive photoreceptor apoptosis. It is the leading cause of inherited retinal degeneration-associated blindness. RP has a unique set of clinical characteristics that make it a complex disease associated with distinct inheritance patterns. An understanding of the pathogenesis is essential in the process of the differential diagnosis and the development of treatment options. Recent developments in research are likely to expand the various therapeutic modalities to include gene therapy, pharmacologic treatment, cell transplantation, and neuro-prosthetic devices.
Methods: A literature search was performed to comprehensively review RP diagnosis, pathophysiology, and treatment.
Conclusion: Advances in the understanding of the pathophysiology of RP are creating new opportunities for the treatment of this often visually debilitating eye condition. Optometrists, as primary eye care practitioners, should be aware of the inheritance, pathophysiology, and current treatment options for RP as well as treatments in development so that they can best care for their patients with inherited retinal disorders.
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http://dx.doi.org/10.1016/j.optm.2008.01.026 | DOI Listing |
Ophthalmic Genet
January 2025
Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Introduction: Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.
View Article and Find Full Text PDFClin Genet
January 2025
Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Inherited retinal diseases (IRDs) may have significant diagnostic challenges due to their genetic complexity and diverse inheritance patterns. Advanced genotyping tools like exome sequencing (ES) offer promising opportunities for identifying causative variants and improving disease management. This retrospective study was aimed to present prevalent pathogenic and novel variants in patients diagnosed with IRDs using ES.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.
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