Retinitis Pigmentosa pada Laki-laki 27 Tahun
DOI:
https://doi.org/10.55175/cdk.v47i5.381Keywords:
Bone spicule, nyctalopia, retinitis pigmentosaAbstract
Retinitis pigmentosa merupakan penyakit yang dapat diturunkan secara autosomal-dominant, autosomal-recessive, ataupun X-linked. Diperlukan skrining dan edukasi agar penyakit ini dapat dihadapi dengan baik. Kasus: Laki-laki usia 27 tahun dengan gejala nyctalopia, gangguan lapangan pandang, dan gambaran bone spicule pada funduskopi. Didapatkan riwayat dua orang di keluarganya memiliki keluhan sama.
Retinitis pigmentosa is an autosomal-dominant, autosomal-recessive, or X-linked hereditary disease. Screening and a thorough education is needed. Case: A 27-year old male with symptoms of nyctalopia, visual field decrease, and bone spicule in funduscopy. Two other member of his family also has similar symptoms.
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References
Kanski JJ. Clinical ophthalmology. 6th Ed. New York: Elsevier; 2007.
Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006;368:1795-809.
Na KH, Kim HJ, Kim KH, Han S, Kim P, Hann HJ, et al. Prevalence, age at diagnosis, mortality, and cause of death in retinitis pigmentosa in Korea-a nationwide population-based study. Am J Ophthalmol. 2017:176,157–65.
S Natarajan. Retinitis pigmentosa: A brief overview. Indian J Ophthalmol. 2011;59(5): 343–6.
Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci. 2007;48(3):1298-304.
Fahim AT, Daiger SP, Weleber RG. Nonsyndromic retinitis pigmentosa overview. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1417/
Ait-Ali N, Fridlich R, Millet-Puel G, Clerin E, Delalande F, Jaillard C, et al. Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis. Cell. 2015:161,817–32.
Fujiwara K, Ikeda Y, Murakami Y, Funatsu J, Nakatake S, Tachibana T, et al. Risk factors for posterior subcapsular cataract in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2017;58(5):2534-7.
Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Moser A, Brockhurst RJ, et al. Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: Subgroup analyses. Arch Ophthalmol. 2004;122:1306–14.
Apushkin MA, Fishman GA, Janowicz MJ. Monitoring cystoid macular edema by optical coherence tomography in patients with retinitis pigmentosa. Ophthalmology. 2004;111:1899–904.
Berson EL, Weigel-DiFranco C, Rosner B, Gaudio AR, Sandberg MA. Association of vitamin A supplementation with disease course in children with retinitis pigmentosa. JAMA Ophthal. 2018
Ahn SJ, Kim KE, Woo SJ, Park KH. The effect of an intravitreal dexamethasone implant for cystoid macular edema in retinitis pigmentosa: A case report and literature review. Ophthalmic Surg. Lasers Imaging Retina. 2014;45:160–4.
Tschernutter M, Schlichtenbredeet FC, Howe S, Balaggan KS, Munro PM, Bainbridge JWB, et al. Long-term preservation of retinal function in the RCS rat model of retinitis pigmentosa following lentivirus-mediated gene therapy. Gene Therapy. 2005;12:694–701
Lipinski DM, Thake M, MacLaren RE. Clinical applications of retinal gene therapy. Prog Retin Eye Res. 2013;32:22–47.
Jayakody SA, Gonzalez-Cordero A, Ali RR, Pearson RA. Cellular strategies for retinal repair by photoreceptor replacement. Progr Retin Eye Res. 2015;46:31–66
Yanai D, Weiland JD, Mahadevappa M, Greenberg RJ, Fine I, Humayun MS. Visual performance using a retinal prosthesis in three subjects with retinitis pigmentosa. Am. J. Ophthalmol. 2007;143:820–7.
Weiland JD, Humayun MS. Retinal prosthesis. IEEE Trans. Biomed Eng. 2014;61:1412–24.
Yue L, Weiland JD, Roska B, Humayun MS. Retinal stimulation strategies to restore vision: Fundamentals and systems. Progr Retin Eye Res. 2016;53:21–47.
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