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Objectives, Etiology, Pathophysiology, Histopathology, Evaluation, Differential Diagnosis and Treatment of Retinitis Pigmentosa

G. Sri Manjula, Ramanjaneyulu D. V., Muralinath E., Guruprasad M., Sravani Pragna K., Manjari P., Sony Sharlet E., T. Nikhil, V.Yaswanth Sai, D. Kusuma latha, R. Faith Rani, P. Megha Varna

Abstract


Retinitis pigmentosa (RP) is a group of genetic eye disorders manifested by the progressive degeneration of photoreceptor cells in the retina, resulting in vision loss. It typically starts with night blindness and gradually narrows the visual field, often leading to tunnel vision. Mutations cause RP in various genes responsible for regulating the health of photoreceptor cells, influencing their ability to respond to light. As RP progresses, individuals may experience difficulty with tasks requiring peripheral vision, like navigating in dimly lit environments or recognizing faces from a distance. Color vision can also be impacted in some cases. While there is currently no cure for RP, ongoing research is investigating potential treatments and therapies to slow its progression or restore vision in patients with RP. Management often is related to low-vision aids, orientation, and mobility training to help individuals adapt to their changing vision. The underlying pathophysiology that results in retinal dysfunction is covered in this activity, along with diagnostic procedures such as a suitable physical examination and appropriate referral for a professional evaluation. Also discussed in this activity is the requirement for appropriate education for patients and their families to keep RP patients abreast of potential treatments and the roles of the interprofessional healthcare team and regulatory bodies in implementing best practices for treating and preventing this disease to improve patient outcomes are presented.

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Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J. (2018). Non-syndromic retinitis pigmentosa. Progress in Retinal and Eye Research, 66, 157-186. https://doi.org/10.1016/j.preteyeres.2018.07.002

Boughman, J. A., Conneally, P. M., & Nance, W. E. (1980). Population genetic studies of retinitis pigmentosa. American Journal of Human Genetics, 32(2), 223-235. https://doi.org/10.1016/S0002-9297(07)80034-3

Weller, J. M., Michelson, G., & Juenemann, A. G. (2014). Unilateral retinitis pigmentosa: 30 years follow-up. BMJ Case Reports. https://doi.org/10.1136/bcr-2014-202490

Bittner, A. K., Diener-West, M., & Dagnelie, G. (2011). Characteristics and possible visual consequences of photopsias as vision measures are reduced in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 52(9), 6370-6376. https://doi.org/10.1167/iovs.10-7090

O'Hare, F., Bentley, S. A., Wu, Z., Guymer, R. H., Luu, C. D., & Ayton, L. N. (2015). Charles Bonnet Syndrome in advanced retinitis pigmentosa. Ophthalmology, 122(9), 1951-1953. https://doi.org/10.1016/j.ophtha.2015.06.030

Wolfrum, U., & Nagel-Wolfrum, K. (2018). The Usher syndrome, a human ciliopathy. Klinische Monatsblätter für Augenheilkunde, 235(3), 273-280. https://doi.org/10.1055/s-0043-118765

Mathur, P., & Yang, J. (2015). Usher syndrome: Hearing loss, retinal degeneration, and associated abnormalities. Biochimica et Biophysica Acta, 1852(3), 406-420. https://doi.org/10.1016/j.bbadis.2014.10.011

Daiger, S. P., Sullivan, L. S., & Bowne, S. J. (2013). Genes and mutations causing retinitis pigmentosa. Clinical Genetics, 84(2), 132-141. https://doi.org/10.1111/cge.12058

Yang, Y. J., Peng, J., Ying, D., & Peng, Q. H. (2018). A brief review on the pathological role of decreased blood flow affected in retinitis pigmentosa. Journal of Ophthalmology, 2018, 3249064. https://doi.org/10.1155/2018/3249064

Phelan, J. K., & Bok, D. (2000). A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Molecular Vision, 6, 116-124. https://www.molvis.org/molvis/v6/a14/

Chang, S., Vaccarella, L., Olatunji, S., Cebulla, C., & Christoforidis, J. (2011). Diagnostic challenges in retinitis pigmentosa: Genotypic multiplicity and phenotypic variability. Current Genomics, 12(4), 267-275. https://doi.org/10.2174/138920111797944950

Fahim, A. T., Daiger, S. P., & Weleber, R. G. (2000). Nonsyndromic retinitis pigmentosa overview. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, & A. Amemiya (Eds.), GeneReviews® [Internet]. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1111/

Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994). Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science, 264(5165), 1604-1608. https://doi.org/10.1126/science.8171316

Cross, N., van Steen, C., Zegaoui, Y., Satherley, A., & Angelillo, L. (2022). Retinitis pigmentosa: Burden of disease and current unmet needs. Clinical Ophthalmology, 16, 1993-2010. https://doi.org/10.2147/OPTH.S366636

Haim, M., Holm, N. V., & Rosenberg, T. (1992). Prevalence of retinitis pigmentosa and allied disorders in Denmark: Main results. Acta Ophthalmologica, 70(2), 178-186. https://doi.org/10.1111/j.1755-3768.1992.tb00086.x

Bundey, S., & Crews, S. J. (1984). A study of retinitis pigmentosa in the City of Birmingham: I. Prevalence. Journal of Medical Genetics, 21(6), 417-420. https://doi.org/10.1136/jmg.21.6.417

Sen, P., Bhargava, A., George, R., Ve Ramesh, S., Hemamalini, A., Prema, R., Kumaramanickavel, G., & Vijaya, L. (2008). Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiology, 15(4), 279-281. https://doi.org/10.1080/09286580802251182

Gupta, K. K., Gurung, G., & Tulsyan, N. (2022). Prevalence of retinitis pigmentosa in a tertiary eye hospital of Nepal. Nepal Journal of Ophthalmology, 14(27), 31-38. https://doi.org/10.3126/nepjoph.v14i27.39393

Delmaghani, S., & El-Amraoui, A. (2022). The genetic and phenotypic landscapes of Usher syndrome: From disease mechanisms to a new classification. Human Genetics, 141(3-4), 709-735. https://doi.org/10.1007/s00439-022-00482-5

Tsujikawa, M., Wada, Y., Sukegawa, M., Sawa, M., Gomi, F., Nishida, K., & Tano, Y. (2008). Age at onset curves of retinitis pigmentosa. Archives of Ophthalmology, 126(3), 337-340. https://doi.org/10.1001/archopht.126.3.337


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