한국인 망막색소변성 환자의 최초 진단 시 임상적 특성
Clinical Characteristics at Initial Diagnosis of Korean Patients with Retinitis Pigmentosa
2
조회
0
다운로드
2
인용
0
참고문헌
키워드
초록
목적: 망막색소변성으로 진단된 국내 환자의 임상적 특성을 알아보고자 한다. 대상과 방법: 2014년 1월부터 2019년 12월 사이에 망막색소변성으로 최초 진단받은 환자를 대상으로 후향적 의무기록 분석을 시행하였다. 환자의 나이, 성별, 주된 소견 및 최대교정시력을 확인하였다. 추가로 후낭하백내장 여부, 빛간섭단층촬영상의 이상 소견, 시야검사, 눈전위도검사의 결과에 대한 분석을 시행하였다. 결과: 총 246명 492안을 대상으로 결과를 분석하였다. 평균 나이는 48.0 ± 16.0세였으며, 주된 주호소는 시력저하와 야맹증이었다. 평균 logMAR 최대교정시력은 0.31 ± 0.50이었으며 368안(74.8%)에서 decimal 시력이 0.5 이상이었다. 시야검사를 시행한 462안중 328안(71.0%)에서 중심 10° 이내의 시야이상이 나타났으며, 눈전위도검사를 시행한 242안에서 평균 아덴비는 1.28 ± 0.28이었다. 빛간섭단층촬영에서 유리체황반견인/망막앞막이 135안(27.4%), 낭포황반부종이 48안(9.8%), 황반의 얇아짐이 112안(22.8%)에서관찰되었다. 중심와 타원체구역 상태의 경우 온전한 상태가 222안(45.1%), 손상된 상태가 220안(44.7%), 심한 손상으로 관찰되지 않는상태가 50안(10.2%)이었다. 결론: 망막색소변성 환자들은 진단 시 0.5 이상의 시력을 보이는 경우가 많았으나 높은 빈도로 중심시야의 손상이 나타났다. 대부분의환자에서 빛간섭단층촬영상 다양한 이상 소견이 관찰되었다.
Abstract
Purpose: To evaluate the clinical characteristics of Korean patients diagnosed with retinitis pigmentosa. Methods: We retrospectively reviewed the medical records of patients diagnosed with retinitis pigmentosa from January 2014 to December 2019. We evaluated age, gender, the chief complaints, posterior subcapsular cataract status, abnormalities on optical coherence tomography, visual field test results, and electrooculograms. Results: A total of 492 eyes of 246 patients were included. The mean patient age was 48.0 ± 16.0 years and the chief complaints were decreased vision and night blindness. The mean logarithm of the minimal angle of resolution (logMAR) best‐corrected visual acuity (BCVA) was 0.31 ± 0.50. The BCVA was 0.5 or better in 368 eyes (74.8%). A total of 328 (71.0%) of 462 eyes that underwent visual field testing exhibited visual field defects within 10º. The mean Arden ratio was 1.28 ± 0.28 for the 242 eyes that underwent electro‐oculography. Optical coherence tomography revealed vitreomacular traction/an epiretinal membrane, cystoid macular edema, and retinal thinning in 135 (27.4%), 48 (9.8%), and 112 (22.8%) eyes, respectively. The ellipsoid zone was intact in 222 eyes (45.1%), disrupted in 220 (44.7%), and absent in 50 (10.2%). Conclusions: Most patients with retinitis pigmentosa exhibited visual acuity of 0.5 or better, but also had central visual field defects. Various abnormalities were noted on optical coherence tomography of most patients.
참고문헌 (37)
- Dias MF, "Molecular genetics and emerging therapies for retinitis pigmentosa : basic research and clinical perspectives", Prog Retin Eye Res, 63, pp.107~131 (2018)
- Rim TH, "Four-year nationwide incidence of retinitis pigmentosa in South Korea : a population-based retrospective study from 2011 to 2014", BMJ Open, 7, pp.e015531~ (2017)
- Na KH, "Prevalence, age at diagnosis, mortality, and cause of death in retinitis pigmentosa in Korea-a nationwide population-based study", Am J Ophthalmol, 176, pp.157~165 (2017)
- Pagon RA, "Retinitis pigmentosa", Surv Ophthalmol, 33, pp.137~177 (1988)
- Verbakel SK, "Non-syndromic retinitis pigmentosa", Prog Retin Eye Res, 66, pp.157~186 (2018)
- WolffND, "A commentary on commercial genetic testing and the future of the genetic counseling profession", J Genet Couns, 27, pp.521~527 (2018)
- Holladay JT, "Visual acuity measurements", J Cataract Refract Surg, 30, pp.287~290 (2004)
- Lupo S, "Fourier-domain optical coherence tomography and microperimetry findings in retinitis pigmentosa", Am J Ophthalmol, 151, pp.106~111 (2011)
- Takagi S, "Optical coherence tomography angiography in patients with retinitis pigmentosa who have normal visual acuity", Acta Ophthalmol, 96, pp.e636~42 (2018)
- Sandberg MA, "Disease course of patients with pericentral retinitis pigmentosa", Am J Ophthalmol, 140, pp.100~106 (2005)
- Herse P, "Retinitis pigmentosa : visual function and multidisciplinary management", Clin Exp Optom, 88, pp.335~350 (2005)
- 최유진, "유리체절제술로 치료한 망막색소변성 환자의 낭포황반부종 1예", 대한안과학회지, 59(8), pp.790~796 (2018), 대한안과학회
- 장선영, "전체시야망막전위도에서 무반응인 망막색소상피변성의 다국소망막전위도", 대한안과학회지, 50(12), pp.1817~1823 (2009), 대한안과학회
- 서제현, "Assessment of Functional Vision Score and Vision-Specific Quality of Life in Individuals With Retinitis Pigmentosa", Korean Journal of Ophthalmology, 23(3), pp.164~168 (2009), 대한안과학회
- 유승훈, "일측성 망막색소상피변성 증례건의 문헌고찰", 대한안과학회지, 56(4), pp.559~566 (2015), 대한안과학회[DOI]
- 이선호, "Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans", Journal of Korean Medical Science, 25(6), pp.918~923 (2010), 대한의학회
- Milam AH, "Histopathology of the human retina in retinitis pigmentosa", Prog Retin Eye Res, 17, pp.175~205 (1998)
- Wojtkowski M, "Ophthalmic imaging by spectral optical coherence tomography", Am J Ophthalmol, 138, pp.412~419 (2004)
- Witkin AJ, "Ultra-high resolution optical coherence tomography assessment of photoreceptors in retinitis pigmentosa and related diseases", Am J Ophthalmol, 142, pp.945~952 (2006)
- Fishman GA, "Prevalence of posterior subcapsular lens opacities in patients with retinitis pigmentosa", Br J Ophthalmol, 69, pp.263~266 (1985)
- Fujiwara K, "Risk factors for posterior subcapsular cataract in retinitis pigmentosa", Invest Ophthalmol Vis Sci, 58, pp.2534~2537 (2017)
- Joy A, "Basal membrane complex architecture is disrupted during posterior subcapsular cataract formation in Royal College of Surgeons rats", Mol Vis, 20, pp.1777~1795 (2014)
- Yoshida N, "Clinical evidence of sustained chronic inflammatory reaction in retinitis pigmentosa", Ophthalmology, 120, pp.100~105 (2013)
- Liew G, "Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa", Br J Ophthalmol, 103, pp.1163~1166 (2019)
- Hajali M, "The prevalence of cystoid macular oedema on optical coherence tomography in retinitis pigmentosa patients without cystic changes on fundus examination", Eye(Lond), 23, pp.915~919 (2009)
- Strong S, "Retinitis pigmentosa-associated cystoid macular oedema : pathogenesis and avenues of intervention", Br J Ophthalmol, 101, pp.31~37 (2017)
- Park UC, "A randomized paired-eye trial of intravitreal dexamethasone implant for cystoid macular edema in retinitis pigmentosa", Retina, 40, pp.1359~1366 (2020)
- Piazza L, "Visual acuity loss in patients with Usher's syndrome", Arch Ophthalmol, 104, pp.1336~1339 (1986)
- 한상범, "한국인에서 발생한 어셔증후군의 임상양상", 대한안과학회지, 48(7), pp.950~956 (2007), 대한안과학회
- Stavrou P, "ERG and EOG abnormalities in carriers of X-linked retinitis pigmentosa", Eye(Lond), 10(Pt 5), pp.581~589 (1996)
- Arden GB, "The electro-oculographic responses to alcohol and light in a series of patients with retinitis pigmentosa", Invest Ophthalmol Vis Sci, 41, pp.2730~2734 (2000)
- Thavikulwat AT, "The effects of gender and age on the range of the normal human electro-oculogram", Doc Ophthalmol, 131, pp.177~188 (2015)
- Birtel J, "Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa", PLoS One, 13, pp.e0207958~ (2018)
- Kim C, "Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa", Mol Vis, 18, pp.2398~2410 (2012)
- 김민석, "Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases", Journal of Korean Medical Science, 34(21), pp.1~11 (2019), 대한의학회
- Kim YJ, "Diverse genetic landscape of suspected retinitis pigmentosa in a large Korean cohort", Genes(Basel), 12, pp.675~ (2021)
- Kim YN, "Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients", Sci Rep, 10, pp.19540~ (2020)