뮤코리피드증 제2형 환자의 안 소견

서수연(Su Youn Suh),전종근(Chong Kun Cheon),정재호(Jae Ho Jung) 대한안과학회 2017 대한안과학회지 Vol.58 No.5

Purpose: To report ocular findings of a mucolipidosis type II patient with novel mutation. Case summary: A 10-year-old boy visited our pediatric genetic metabolic clinic for evaluation of his overall developmental delay and short stature. The boy was diagnosed with mucolipidosis type II (I-cell disease) using plasma enzyme assay and DNA sequencing of the GNPTAB gene mutation. An ophthalmologic investigation was then performed, and a depressed nasal bridge, broad nose, and swelling in the upper lid of both eyes were noted. The best corrected visual acuity was 0.32 and 0.1 and the intraocular pressure was 35 mmHg and 24 mmHg in the right and left eyes, respectively. The anterior chamber angles of both eyes were normal and mild cornea opacity in both eyes was observed. Fundus examination revealed retinal atrophy with folds in both eyes, as well as optic disc edema and optic atrophy in the right and left eyes, respectively. Atherosclerotic changes in the retinal vessels and cystoid macular edema in the left eye were observed, and ocular ultrasound revealed increased posterior sclera thickness in both eyes. Conclusions: Ocular manifestations of mucolipidosis type II are not currently well-known, and differentiation from other metabolic disorders may be difficult. An ophthalmic work-up can assist in diagnosis, and regular ophthalmic examinations should be used to maintain visual function in mucolipidosis patients. J Korean Ophthalmol Soc 2017;58(5):616-619 목적: 뮤코리피드증 제2형 환아에서 관찰한 안 소견을 보고하고자 한다. 증례요약: 만 10세 남아가 전반적인 발달지연 및 저신장을 주소로 소아 유전대사 클리닉에 내원하였다. 효소분석검사 및 GNPTAB 유전자검사를 통해 새로운 돌연변이로 발생한 뮤코리피드증 제2형으로 진단하였다. 동반된 안과적 이상을 확인하기 위해 소아안과로 전과되었다. 낮은 콧등에 넓은 코와 양측 상안검 부종이 관찰되었으며 우안 최대교정시력은 0.32, 좌안 최대교정시력은 0.1이었고, 안압은 우안 35 mmHg, 좌안 24 mmHg로 측정되었다. 전방각경 검사상 전방각의 형태는 정상이었고, 세극등현미경 검사상 양안에 경도의 각막혼탁이 관찰되었다. 안저검사상 양안 망막위축과 주름이 관찰되었고 우안 시신경유두부종과 좌안 시신경위축이 관찰되었 으며, 좌안 망막 동맥혈관의 경화성 변화와 낭포황반부종이 관찰되었다. 또한 안초음파 검사상 양안의 시신경 주변 후공막의 두께가 두꺼워져 있는 것을 확인하였다. 결론: 뮤코리피드증 제2형은 다양한 안 이상을 동반하는 전신질환으로, 대상이상 질환과 감별이 필요한 질환이다. 안과 검사를 통해 질환을 진단하는 데 도움되며, 또한 시기능 유지를 위해 정기적인 안과검진이 필요하다고 생각한다. <대한안과학회지 2017;58(5):616-619>

동공괄약근 마비가 발생한 급성폐쇄각녹내장 환자의 백내장수술 후 고위수차 변화

서수연(Su Youn Suh),이동현(Dong Hyun Lee),조성호(Seong Ho Jo),신종훈(Jonghoon Shin),서제현(Je Hyun Seo) 대한검안학회 2018 Annals of optometry and contact lens Vol.17 No.2

Purpose: To investigate the change of ocular higher-order aberrations (HOA) after cataract surgery in the eyes of acute primary angle closure (PAC) attack with mid-dilated fixed pupil. Methods: This study included eyes of patients with mid-fixed dilated pupil after acute primary angle closure attack. Also, uncomplicated cataract patients were enrolled as control. All the eyes had been underwent cataract surgery with phacoemulsification. Best-corrected visual acuity (BCVA, in logMAR) and HOA (i-Trace, Tracey technologies, Houston, TX) were evaluated preoperatively and postoperatively at 1 month. Paired t-test were used to compare preoperative and postoperative HOA values, and independent t-test for comparison of postoperative HOA in PAC and control groups. Results: BCVA were significantly increased in PAC group (0.64 ± 0.51 vs. 0.43 ± 0.45, p=0.042, respectively), and in control group (0.51 ± 0.25 vs. 0.18 ± 0.15, p<0.001, respectively). Intraocular pressure were significantly decreased in both groups. In control group, coma-like, spherical-like, and high order total (HOT) aberrations were significantly changed (p=0.006, 0.008, 0.006, respectively) in internal optics aberrations. However, HOA values did not show significant changes in PAC group. HOT aberrations of entire eye after cataract surgery in PAC group were higher than those in control group (1.21 ± 1.13 vs. 0.41 ± 0.48, p=0.001). Conclusions: This result suggests that HOAs change after cataract surgery were less profound in the eyes with mid-fixed dilated pupil after acute primary angle closure attack than uncomplicated cataract group.

다양한 각막질환에서 미니공막콘택트렌즈의 임상결과

서수연(Su Youn Suh),이종헌(Jong Heon Lee),이승욱(Seung Uk Lee),박영기(Young Kee Park),이종수(Jong Soo Lee),이지은(Ji Eun Lee) 대한안과학회 2016 대한안과학회지 Vol.57 No.11

목적: 다양한 각막질환에서 미니공막콘택트렌즈(Mini Scleral Design [MSD]; Happy Vision Corp., Anyang, Korea)의 처방 및 임상결과를 보고하고자 한다. 대상과 방법: 미니공막콘택트렌즈를 처방하였던 38명 56안에 대해 의무기록을 바탕으로 적응증, 렌즈 착용 전후 최대교정시력, 착용감, 평균 착용 시간, 최종 처방 렌즈 디자인, 최종 처방 전 시험 렌즈 착용 횟수, 렌즈 재주문 횟수 및 합병증에 대해 후향적으로 분석하였다. 결과: 렌즈 적응증으로는 원추각막이 42안(75%)으로 가장 많았고, 그 외 스티븐스존슨 증후군 6안(11%), 각막이식술 후 불규칙난시3안(5%), 각막 반흔 3안(5%), 라식 수술 후 각막확장증 2안(4%) 순이었다. 평균 최대교정시력(logMAR)은 착용 전 1.01 ± 0.64에서 착용 후 0.13 ± 0.19로 개선되었다(p=0.0001). 착용감은 53안(94.6%)에서 편안하다고 하였고, 하루 평균 착용시간은 12.9 ± 2.5시간 이었다. 최종 처방 렌즈의 시상 높이는 4.67 ± 0.37 mm (3.7-5.4)였고, 최종 처방 전 시험렌즈 착용 횟수는 3.3 ± 1.5 (1-7)회였으며, 최종 처방 후 1.5 ± 0.48 (1-3)회의 재주문이 필요하였다. 1명의 원추 각막 환자는 개선되지 않는 렌즈 압박감으로 인해 3개월 후 렌즈 착용을 중단하였다. 결론: 다양한 각막이상을 보이는 환자들에서 미니공막콘택트렌즈 착용 시 시력 호전 및 우수한 착용감을 얻을 수 있었으며, 이는 향후 훌륭한 대안이 될 수 있을 것으로 사료된다. <대한안과학회지 2016;57(11):1699-1705> Purpose: To evaluate the clinical results of fitting the miniscleral contact lens (MSD; Happy Vision Corp., Anyang, Korea) in patients with corneal abnormalities. Methods: Thirty-eight patients (56 eyes) fitted with MSD lenses were recruited for this study. Clinical indication, visual acuity, degree of comfort, mean wearing time, parameters of the finally prescribed lenses, number of fittings with trial lenses, success rate with the first prescribed lens, and adverse events were evaluated. Results: Forty-two (75%) of 56 eyes were enrolled in this study due to keratoconus. Other conditions included Stevens-Johnson syndrome (6 eyes, 11%), high postkeratoplasty astigmatism (3 eyes, 5%), corneal scarring (3 eyes, 5%), and ectasia after laser in situ keratomileusis (LASIK; 2 eyes, 4%). The mean log MAR visual acuity improved from 1.01 ± 0.64 to 0.13 ± 0.19 after wearing lenses (p = 0.0001). In 53 eyes (94.6%), patients reported the miniscleral contact lenses to be comfortable, and the mean daily wear time was 12.9 ± 2.5 hours. The mean sagittal depth of finally prescribed lenses was 4.67 ± 0.37 mm (3.7-5.4). An average of 3.3 ± 1.5 (1-7) trials were needed for the trial fitting, and the average number of re-prescriptions to achieve the optimal fitting was 1.5 ± 0.48 (1-3). One patient discontinued the lenses after 3 months due to discomfort. Conclusions: Miniscleral contact lenses are a good alternative for patients with corneal abnormalities and result in both successful visual outcome and comfort. J Korean Ophthalmol Soc 2016;57(11):1699-1705

4세 이하의 선천성 코눈물관막힘 환아에서 외래에서 시행한 코눈물관탐침술 임상결과 분석

강민승(Min Seung Kang),서수연(Su Youn Suh),안정효(Jung Hyo Ahn) 대한안과학회 2021 대한안과학회지 Vol.62 No.5

목적: 4세 이하 선천성 코눈물관막힘 환아에서 나이에 따른 코눈물관탐침술의 효과를 분석하고자 한다. 대상과 방법: 선천성 코눈물관막힘으로 진단받고 코눈물관탐침술을 시행한 환아 146명(200안)을 대상으로 후향적 연구를 실시하였다. 연령에 따라서 A군(6개월 이하), B군(6개월 초과 12개월 이하), C군(12개월 초과 20개월 이하), D군(20개월 초과 48개월 이하)으로 분류하여 시술 당시의 나이, 성별, 시술의 양측성 여부, 경과 관찰 기간, 임상증상을 조사하고, 각 군별 양측성 여부, 탐침술의 횟수에 따른 코눈물관탐침술의 성공률을 비교 분석하였다. 결과: 첫 번째 탐침술의 성공률은 160/200안(80.0%), 연령별로 A군에서 87.5%, B군에서 85.7%, C군에서 77.6%, D군에서 76.7%로 확인되었으며, 각 군별 성공률은 유의한 차이가 없었다(p=0.550). 두 번째 탐침술은 총 40안에서 시행하였으며, 성공률은 25/40안 (62.5%)이었다. A군에서 100%, B 군에서 87.5%, C군에서 70.6%, D군에서 35.7%로 확인되었으며, 각 군별 성공률은 유의한 차이가 있었다(p=0.048). 시술의 편측성 여부에 따른 각 군별 탐침술의 성공률은 통계학적으로 유의한 차이가 없었다(p=0.291). 결론: 4세 이하의 환아에서 나이에 따른 첫 번째 코눈물관탐침술의 성공률에는 유의한 차이가 없었지만, 두 번째 코눈물관탐침술은 나이에 따른 성공률의 차이가 있었으며, 특히 20개월 이상에서 재시술 성공률은 감소하였다. Purpose: To analyze the effect of office-based probing in different age groups of children with congenital nasolacrimal duct obstruction. Method: A retrospective study was conducted in 146 children (200 eyes) diagnosed with congenital nasolacrimal duct obstruction who underwent office-based probing. The children were classified into four groups at the time of probing: group A (< 6 months), group B (> 6 months but < 12 months), group C (> 12 months but < 20 months), and group D (> 20 months but < 48 months). Age at the time of the procedure, gender, laterality, follow-up period, clinical symptoms, and the number of probings were investigated. Success rates were compared among the four groups in terms of sex, age, laterality, and the number of probings. Results: The success rate of the first probing was 160/200 eyes (80.0%). The success rates were 87.5% in group A, 85.7% in group B, 77.6% in group C, and 76.7% in group D. No significant difference in the success rate was observed according to age (p = 0.550). The second probing was performed in 40 eyes. The success rates were 100% in group A, 87.5% in group B, 70.6% in group C, and 35.7% in group D. A significant difference in the success rate was observed according to age (p = 0.048). The success rate of the second probing was 25/40 eyes (62.5%). No significant difference in laterality was observed among the four groups (p = 0.291). Conclusions: No significant difference in the success rate of first nasolacrimal duct probing was detected, but a significant differ￾ence in the success rate of the second probing was detected according to age in children < 4 years of age.

대회향의 시스템 약리학적 분석과 항균작용

한정아(Jeong A Han),추지은(Ji Eun Choo),손지원(Jee Won Shon),김윤숙(Youn Sook Kim),서수연(Su Yeon Suh),안원근(Won Gun An) 한국생명과학회 2019 생명과학회지 Vol.29 No.2

시스템 약리학적 분석을 통해 대회향(Anisi Stellati Fructus)의 활성성분 스크리닝, 표적유전자 확보 및 관련 질병과의 네트워크를 구축한 후 대회향의 항균작용을 중점적으로 분석하였다. Traditional Chinese Medicine Systems Pharmacology (TCMSP) Database 와 Analysis Platform을 통해 대회향의 잠재적 활성성분 49개를 확보하였으며, 그 중 설정한 조건에 부합하는 9개 활성성분을 스크리닝 하였다. TCMSP Database는 활성성분의 약물 동태학적 특성 및 약물-표적-질병 간의 관련성을 네트워크 수준에서 파악할 수 있는 획기적인 in silico적 접근을 가능하게 해준다. 활성성분과 반응하는 201개의 유전자 정보를 UniProt database를 통해 확인하고, 취합한 유전자들이 관여하는 348개의 생물학적 과정을 David 6.8 Gene Functional Classification Tool에서 확보하였다. Chemokine ligand 2, Interleukin-10, Interleukin-6, Tumor Necrosis Factor를 포함한 총 47개의 유전자가 항균작용에 관여하였고 이들을 표적으로 하는 luteolin, kaempferol, quercetin 등이 대표적 항균 관련 활성성분이었다. 이와 같이 확보된 데이터는 연구 재료 선정에 정확성과 시간, 노력, 비용 절감의 효과를 제공함과 더불어 추후 실험적 증명으로 이어져 감염병의 예방과 치료 전략에 과학적인 근거를 제시할 수 있을 것이다. The purpose of this study was to acquire the active compounds of Anisi stellati fructus (ASF) and to analyze the genes and diseases it targets, focusing on its antibacterial effects using a system pharmacological analysis approach. Active compounds of ASF were obtained through the Traditional Chinese Medicine Systems Pharmacology (TCMSP) Database and Analysis Platform. This contains the pharmacokinetic properties of active compounds and related drug–target–disease networks, which is a breakthrough in silico approach possible at the network level. Gene information of targets was gathered from the UnitProt Database, and gene ontology analysis was performed using the David 6.8 Gene Functional Classification Tool. A total of 201 target genes were collected, which corresponded to the nine screened active compounds, and 47 genes were found to act on biological processes related to antimicrobial activity. The representative active compounds involved in antibacterial action were luteolin, kaempferol, and quercetin. Among their targets, Chemokine ligand2, Interleukin-10, Interleukin-6, and Tumor Necrosis Factor were associated with more than three antimicrobial biological processes. This study has provided accurate evidence while saving time and effort to select future laboratory research materials. The data obtained has provided important data for infection prevention and treatment strategies.