Clinical aspects of retinitis pigmentosa: an integrative review
DOI:
https://doi.org/10.33448/rsd-v9i12.11482Keywords:
Retinitis Pigmentosa; Cone-Rod Dystrophies; Heredity.Abstract
Retinitis Pigmentosa (RP) is a retinal disease characterized by varied genetic mutations in its pathogenesis, it belongs to a group of progressive retinal dystrophies genetically inherited and results from the death of the retinal pigment epithelium and photoreceptors, being characterized by rod degeneration, followed by by the cones. In order to contribute to a greater understanding of this topic, given its socioeconomic impacts and the quality of life of patients, an integrative literature review was carried out with a total of 22 articles. After analysis, it was observed that the disease can be divided into typical, more common, and atypical, according to its pathophysiology, or syndromic and non-syndromic, based on the set of clinical manifestations. In addition, symptoms can begin in childhood or adulthood, with unpredictable progression, with visual loss being classically symmetrical and bilateral, initially peripheral, progressing until only part of the central visual field remains. Regarding the ophthalmic examination, the main findings were deposits of peripherally pigmented bone spikes, associated with atrophy and / or dystrophy of the retinal pigment epithelium, attenuation of the retinal vessels, pallor of the optic nerve and relatively spared macula. Complementary tests include central and peripheral visual field mapping, electroretinography, optical coherence tomography, and fundus autofluorescence. The diagnosis of PR is related to the appearance of depressive symptoms, and its management was characterized by requiring a multidisciplinary approach, so that the available treatment is supportive, with auxiliary measures for low vision, tests and genetic counseling and treatment of conditions associated, with no curative therapy.
References
Alnawaiseh, M., Schubert, F., Heiduschka, P., & Eter, N. (2019). Optical coherence tomography angiography in patients with retinitis pigmenTOSA. Retina, 39(1), 210–217. https://doi.org/10.1097/IAE.000000000000190
Anil, K., & Garip, G. (2018). Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: A survey study. BMC Ophthalmology, 18(1), 1–12. https://doi.org/10.1186/s12886-018-0689-2
Bawankar, P., Deka, H., Barman, M., Bhattacharjee, H., & Soibam, R. (2018). Unilateral retinitis pigmentosa: clinical and electrophysiological diagnosis. Canadian Journal of Ophthalmology, 53(3), e94–e97. https://doi.org/10.1016/j.jcjo.2017.08.007
Berson, E. L., Weigel-DiFranco, C., Rosner, B., Gaudio, A. R., & Sandberg, M. A. (2018). Association of Vitamin A supplementation with disease course in children with retinitis pigmentosa. JAMA Ophthalmology, 136(5), 490–495. https://doi.org/10.1001/jamaophthalmol.2018.0590
Bhattarai D, Paudel N, Adhikari P, Gnyawali S, Joshi SN. (2015). Unilateral Retinitis Pigmentosa. Nepal Journal of Ophthalmology, 7(13):56-59. https://doi.org/10.3126/nepjoph.v7i1.13171
Birch, D. G., Bennett, L. D., Duncan, J. L., Weleber, R. G., & Pennesi, M. E. (2016). Long-term Follow-up of Patients With Retinitis Pigmentosa Receiving Intraocular Ciliary Neurotrophic Factor Implants. American Journal of Ophthalmology, 170, 10–14. https://doi.org/10.1016/j.ajo.2016.07.013
Errera, M. H., Robson, A. G., Wong, T., Hykin, P. G., Pal, B., Sagoo, M. S., Pavesio, C. E., Moore, A. T., Webster, A. R., MacLaren, R. E., & Holder, G. E. (2019). Unilateral pigmentary retinopathy: a retrospective case series. Acta Ophthalmologica, 97(4), e601–e617. https://doi.org/10.1111/aos.13981
Fujiwara, K., Ikeda, Y., Murakami, Y., Tachibana, T., Funatsu, J., Koyanagi, Y., Nakatake, S., Yoshida, N., Nakao, S., Hisatomi, T., Yoshida, S., Yoshitomi, T., Ishibashi, T., & Sonoda, K. H. (2018). Assessment of central visual function in patients with retinitis pigmentosa. Scientific Reports, 8(1), 1–7. https://doi.org/10.1038/s41598-018-26231-9
Lang, M., Harris, A., Ciulla, T. A., Siesky, B., Patel, P., Belamkar, A., Mathew, S., & Verticchio Vercellin, A. C. (2019). Vascular dysfunction in retinitis pigmentosa. Acta Ophthalmologica, 97(7), 660–664. https://doi.org/10.1111/aos.14138
Liew, G., Moore, A. T., Bradley, P. D., Webster, A. R., & Michaelides, M. (2018). Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa. Ophthalmic Epidemiology, 25(3), 183–186. https://doi.org/10.1080/09286586.2017.1383448
Mendes, Karina Dal Sasso, Silveira, Renata Cristina de Campos Pereira, & Galvão, Cristina Maria. (2008). Revisão integrativa: método de pesquisa para a incorporação de evidências na saúde e na enfermagem. Texto & Contexto - Enfermagem, 17(4), 758-764. https://dx.doi.org/10.1590/S0104-07072008000400018
Mercado, C. L., Pham, B. H., Beres, S., Marmor, M. F., & Lambert, S. R. (2018). Unilateral retinitis pigmentosa in children. Journal of AAPOS, 22(6), 457-461.e4. https://doi.org/10.1016/j.jaapos.2018.08.003
Mills, J. O., Jalil, A., & Stanga, P. E. (2017). Electronic retinal implants and artificial vision: Journey and present. Eye (Basingstoke), 31(10), 1383–1398. https://doi.org/10.1038/eye.2017.65
Murakami, Y., Ikeda, Y., Akiyama, M., Fujiwara, K., Yoshida, N., Nakatake, S., Notomi, S., Nabeshima, T., Hisatomi, T., Enaida, H., & Ishibashi, T. (2015). Correlation between macular blood flow and central visual sensitivity in retinitis pigmentosa. Acta Ophthalmologica, 93(8), e644–e648. https://doi.org/10.1111/aos.12693
Nakagawa, S., Oishi, A., Ogino, K., Morooka, S., Oishi, M., Sugahara, M., & Yoshimura, N. (2016). Asymmetric cone distribution and its clinical appearance in retinitis pigmentosa. Retina, 36(7), 1340–1344. https://doi.org/10.1097/IAE.0000000000000904
Pereira, A. S., Shitsuka, D. M., Parreira, F. J., Shitsuka, R. (2018). Metodologia da pesquisa científica. Santa Maria-RS.
Prem Senthil, M., Khadka, J., & Pesudovs, K. (2017). Seeing through their eyes: Lived experiences of people with retinitis pigmentosa. Eye (Basingstoke), 31(5), 741–748. https://doi.org/10.1038/eye.2016.315
Rezaei, K. A., Zhang, Q., Chen, C. L., Chao, J., & Wang, R. K. (2017). Retinal and choroidal vascular features in patients with retinitis pigmentosa imaged by OCT based microangiography. Graefe’s Archive for Clinical and Experimental Ophthalmology, 255(7), 1287–1295. https://doi.org/10.1007/s00417-017-3633-x
Sayo, A., Ueno, S., Kominami, T., Nishida, K., Inooka, D., Nakanishi, A., Yasuda, S., Okado, S., Takahashi, K., Matsui, S., & Terasaki, H. (2017). Longitudinal study of visual field changes determined by Humphrey Field Analyzer 10-2 in patients with Retinitis Pigmentosa. Scientific Reports, 7(1), 1–8. https://doi.org/10.1038/s41598-017-16640-7
Sorrentino, F. S., Gallenga, C. E., Bonifazzi, C., & Perri, P. (2016). A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: A better understanding of the pathophysiology using the newest genetic strategies. Eye (Basingstoke), 30(12), 1542–1548. https://doi.org/10.1038/eye.2016.197
Souza, Marcela Tavares de, Silva, Michelly Dias da, & Carvalho, Rachel de. (2010). Revisão integrativa: o que é e como fazer. Einstein (São Paulo), 8(1), 102-106. https://doi.org/10.1590/s1679-45082010rw1134
Stamate, A. C., Burcea, M., & Zemba, M. (2016). Unilateral pigmentary retinopathy--a review of literature and case presentation. Romanian Journal of Ophthalmology, 60(1), 47–52.
Totan, Y., Güler, E., Yüce, A., & Dervişogulları, M. S. (2017). The adverse effects of valproic acid on visual functions in the treatment of retinitis pigmentosa. Indian journal of ophthalmology, 65(10), 984–988. https://doi.org/10.4103/ijo.IJO_978_16
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.2018.03.005
Wang, X. N., Zhao, Q., Li, D. J., Wang, Z. Y., Chen, W., Li, Y. F., Cui, R., Shen, L., Wang, R. K., Peng, X. Y., & Yang, W. L. (2019). Quantitative evaluation of primary retinitis pigmentosa patients using colour Doppler flow imaging and optical coherence tomography angiography. Acta Ophthalmologica, 97(7), e993–e997. https://doi.org/10.1111/aos.14047
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