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- 저자 : 한인균(In Kyun Hahn) (검색결과 3 건)
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녹내장으로 오인된 MT-TL1 유전자 변이 관련 비전형 레버유전시신경병증
한인균(In Kyun Hahn),임현택(Hyun Taek Lim) 대한안과학회 2017 대한안과학회지 Vol.58 No.1
Purpose: Leber hereditary optic neuropathy (LHON) is one of the most common hereditary optic neuropathies caused by mutations of mitochondrial DNA. Three common mitochondrial mutations causing LHON are m.3460, m.11778, and m.14484. We report a rare mutation of the mitochondrial tRNA (Leu [UUR]) gene (MT-TL1) (m.3268 A > G) in a patient with bilateral opticatrophy. Case summary: A 59-year-old female diagnosed with glaucoma 3 years earlier at a community eye clinic presented to our neuro-ophthalmology clinic. On examination, her best corrected visual acuity was 0.4 in the right eye and 0.7 in the left eye, and opticatrophy was noticed in both eyes. Optical coherence tomography revealed retinal nerve fiber layer (RNFL) thinning in both eyes; average RNFL thickness was 52 μm in the right eye and 44 μm in the left eye, but the papillomacular bundle was relatively preserved in both eyes. Goldmann perimetry demonstrated peripheral visual field defects, mostly involving superotemporal visual field in both eyes. Mitochondrial DNA mutation test showed an unusual mutation in MT-TL1 gene seemingly related to this opticneuropathy. Conclusions: We found a rare mutation (m.3268 A > G) of the mitochondrial DNA in a patient having bilateral optic atrophy, which led to the diagnosis of LHON. There have been previous reports about mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and infantile myopathy caused by MT-TL1 mutation, but this is the first case of LHON associated with the same mutation. In this case of LHON associated with MT-TL1 mutation, atypical clinical features were observed with a relatively mild phenotype and peripheral visual field defects.
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한인균(In Kyun Hahn),김대희(Dae Hee Kim),임현택(Hyun Taek Lim) 대한안과학회 2016 대한안과학회지 Vol.57 No.9
목적: 한국인 선천성 무홍채증 환자의 임상양상과 분자유전학적 특성을 분석하여 소개한다. 대상과 방법: 홍채형성저하증을 특징으로 임상적으로 진단된 한국인 선천성 무홍채증 환자를 대상으로 하였다. 최대교정시력, 홍채형성저하증의 정도, 황반형성저하증의 정도 및 동반된 이상소견을 기록하여 분석하였다. PAX6 유전자의 변이분석, 복합결찰의존프로브증폭법 분석, 유전체의 분자 핵형 분석 및 후보 유전자 염기서열 분석을 통한 분자유전학적 검사결과를 분석하였다. 결과: 18가계의 총 28명의 환자가 포함되었다. 최대교정시력은 다양하여 시표로 측정이 가능하였던 19명에서 20/400에서 20/25의 범위였고, 그중 20/200 이하의 시력을 보인 환자는 9명이었다(47%). 황반형성저하증은 전 예에서 관찰되었고, 그중 1명은 매우 경증이었다. PAX6 유전자 분석을 시행한 18가계 중 13가계에서 유전자 변이가 발견되었으며, 2개의 새로운 변이(p.Trp162Leufs*38, p.Gly409Arg)가 발견되었다. 발견된 변이 중 3가계에서는 과오돌연변이(missense mutation), 또 다른 3가계에서는 PAX6 유전자 부위의 큰 결손(large chromosomal deletions)을 보였다. 결론: 선천성 무홍채증과 연관된 2개의 새로운 변이를 발견하여 보고하는 바이다. 선천성 무홍채증은 시력을 위협하는 심각한 안구기형이지만, 중심시력, 홍채형성저하증의 정도는 매우 다양하였다. 전체 가계의 72%에서 PAX6 유전자의 돌연변이가 발견되었고, 돌연변이 유무에 관계없이 경증에서 중증까지 다양한 스펙트럼의 임상양상을 보여주었다. Purpose: To introduce clinical features and molecular characteristics of Korean patients with congenital aniridia. Methods: Patients with iris hypoplasia were diagnosed clinically as congenital aniridia and were included in the study. Best corrected visual acuity (BCVA) and associated ocular abnormalities (including severity of iris hypoplasia, nystagmus, keratopathy, and foveal hypoplasia), and findings in optical coherence tomography were analyzed. PAX6 analysis,multiplex ligation-dependent probe amplification (MLPA), genomic molecular karyotyping, and candidate gene sequencing were performed to detect genetic abnormalities. Results: 28 patients from 18 families were included in the study. BCVA varied from hand motion to 20/25. No manifest nystagmus was found in 3 patients, but the rest of the patients had pendular horizontal nystagmus. Keratopathy was found in 23 patients, cataracts in 12 patients, and glaucoma in 4 patients. All patients had foveal hypoplasia, including one case with a subtle phenotype. The PAX6 mutation was detected in 13 families out of 18;2 (p.Trp162Leufs*38,p.Gly409Arg) were novel,3 families had the miss ensemutation, and 3 families had alargedeletion in the PAX6 gene. Conclusions: This study adds 2 novel PAX6 mutations related to congenital aniridia to those previously reported. Congenital aniridia is a serious, sight-threatening ocular malformation, but central vision and the degree of iris hypoplasia were highly variable. The PAX6 mutation was detected in 72% of the patients in this study, and there were no specific clinical features differentiating aniridia with and without PAX6 mutations.
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한인균(In Kyun Hahn),선재홍(Jae Hong Sun),조수근(Soo Geun Joe),김재용(Jae Yong Kim),김명준(Myoung Joon Kim),최철영(Chul Young Choi),박혜영(Hye Young Park),차흥원(Hungwon Tchah) 대한검안학회 2016 Annals of optometry and contact lens Vol.15 No.4
Purpose: To evaluate the clinical outcomes after in the bag insertion of Superflex?? intraocular lens (IOL) which has 0.25 mm bigger optic diameter than the conventional IOL. Methods: Retrospective chart review was performed for 15 eyes of 13 patients who had undergone phacoemulsification with in the capsular bag insertion of Superflex?? IOL (experimental group) and for 28 eyes of 25 patients with in the bag insertion of Akreos?? (control group). Best-corrected visual acuity (BCVA), manifest refraction, refractive error (RE; [postoperative spherical equivalent]–[preoperative target refraction]), corneal topography, higher-order aberration and contrast sensitivity were measured preoperatively and at 1 week, 1 month and 3 months postoperatively. Their changes after surgery were compared between both groups. Results: At 3 months after the surgery, RE was 0.22 ± 0.39 D in the experimental group and -0.17 ± 0.58 D in the control group, showing more hyperopic RE in the experimental group than the control group (p=0.007). BCVA, spherical equivalent, higher-order aberration, contrast sensitivity, and anterior chamber depth had no significant difference between two groups at 1 week, 1 month, and 3 months after the surgery. Conclusions: Superflex?? IOL showed no significant difference in the clinical outcomes compared with Akreos?? IOL until 3 months after the surgery. However, the target refraction of Superflex?? IOL should be considered more myopic, since its postoperative refraction would be hyperopic.
KCI
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