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        Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa

        곽지용,김해랑,변석호 연세대학교의과대학 2022 Yonsei medical journal Vol.63 No.7

        Here, we report early treatment outcomes of gene therapy for early onset retinitis pigmentosa (RP) (Leber congenital amaurosis)associated with biallelic RPE65 mutation in a 30-year-old female patient. Initially, her visual acuity (VA) was 20/200, and her visu al field (VF) was severely constricted to the center in the left eye. Her electroretinography showed nearly extinct signals. Full-fieldstimulus threshold test (FST) revealed diminished dark-adapted light sensitivity. Voretigene neparvovec-rzyl (VN) is the first invivo viral gene therapy agent to be approved. At 3 months after subretinal injection of VN in the left eye, VA, VF, and FST showedsustained improvement. She did not exhibit any signs of adverse effects from the treatment. Gene therapy for RP proved to be aneffective and safe treatment in an advanced case of RPE65-associatied early onset RP.

      • KCI등재후보

        엑스염색체관련 연소망막층간분리 환자에서 외상 후 발생한 망막박리

        곽지용,임형택,김민,이승규,변석호,김성수,이성철 한국망막학회 2019 Journal of Retina Vol.4 No.2

        Purpose: To report the case of a 4-year-old male with X-linked juvenile retinoschisis (XLRS) who presented with total retinal detachment of the right eye and inner retinal detachment of the left eye after trauma. Case summary: A 4-year-old male patient presented to the emergency department with acute headache and was initially diagnosed with bilateral retinal detachment at a different hospital. Initial intraocular pressure (IOP) was high in the right eye. B-scan ultrasound and optical coherence tomography revealed total retinal detachment of the right eye and inner retinal detachment of the inferior half of the left eye. He was diagnosed with XLRS via genetic analysis, and treatment with acetazolamide stabilized the IOP and prevented further progression of retinoschisis. Conclusions: We describe a rare case of XLRS with severe bilateral retinal detachment after eye trauma. Retinal detachment in one eye eventually stabilized with the use of acetazolamide, whereas his fellow eye, which was more severely affected, progressed to phthisis. We hope to collect and analyze more evidence to understand the apparent susceptibility to eye trauma in patients with XLRS to protect their vision in the future.

      • KCI등재

        Clinical Outcomes of Small Incision Lenticule Extraction in Myopia: Study of Vector Parameters and Corneal Aberrations

        곽지용,전익현,김응권,서경률,김태임 대한안과학회 2020 Korean Journal of Ophthalmology Vol.34 No.1

        Purpose: To investigate clinical outcomes of small incision lenticule extraction (SMILE) including vector parametersand corneal aberrations in myopic patients. Methods: This retrospective, observational case series included 57 eyes (29 patients) that received treatmentfor myopia using SMILE. Visual acuity measurement, manifest refraction, slit-lamp examination, autokeratometry,corneal topography, and evaluation of corneal wavefront aberration were performed preoperatively and at1 and 3 months after surgery. We analyzed the safety, efficacy, vector parameters, and corneal aberrations at3 months after surgery. Results: Preoperatively, mean manifest refraction spherical equivalent refraction was -4.94 ± 1.94 D (range,-8.25 to 0 diopters [D]), and the cylinder was -1.14 ± 0.82 D (range, -3 to 0 D). Mean manifest refraction sphericalequivalent improved to -0.10 ± 0.23 D at 3 months postoperatively, when uncorrected distance visual acuitywas 20 / 20 or better in 55 (96%) eyes. The linear regression model of target induced astigmatism vectorversus surgically induced astigmatism vector exhibited slopes and coefficients (R2) of 0.9618 and 0.9748, respectively(y = 0.9618x + 0.0006, R2 = 0.9748). While total corneal root mean square higher order aberrations,coma and trefoil showed statistically significant increase, spherical aberration did not show statistically significantchange after SMILE. Conclusions: SMILE has proven to be effective and safe for correcting myopia and astigmatism. We showedthat SMILE did not induce spherical aberrations. A small increase in postoperative corneal higher order aberrationmay be associated with increase in coma and trefoil.

      • 횡 파열로 오인하게 하는 내측 반월상 연골 전각부의 비정상적 삽입 - 증례 보고 -

        김동희,곽지용,박진성,황선철,Kim, Dong-Hee,Gwark, Ji-Yong,Park, Jin-Seung,Hwang, Sun-Chul 대한정형외과스포츠의학회 2011 대한정형외과스포츠의학회지 Vol.10 No.2

        Many types of meniscal anomalies have been reported. The authors encountered one case of anomalous insertion of the anterior horn of the medial meniscus to the anterior horn of the lateral meniscus, which ran up along the course of the transverse ligament. This anomalous band was detected in MRI of the knee as a horizontal tear of anterior horn of the lateral meniscus but found during the operation as a anomalous insertion of the anterior horn of the medial meniscus. We report the case with a review of the literature. 23세 남자 환자에서 MRI 소견상 외측 반월상 연골의 전각부의 횡파열 소견을 유발하는 내측 반월상 연골의 비정상적 소견을 보고하고자 한다. 내측 반월상 연골의 비정상적 소견의 많은 형태들이 보고 되었으나 저자들의 경우에서처럼 자기공명영상 소견에서 반월상 연골 파열로 진단 되었으나 실제 관절경 소견으로 내측 반월상 연골의 비정상적 부착으로 인해 오인된 경우에 해당되는 드문 경우를 경험 하였기에 문헌 고찰과 함께 보고하고자 한다.

      • KCI등재

        역학적 축 선정에 따른 전후면 경골천장각의 단순방사선학적 분석

        박진성,정순택,황선철,김동희,곽지용,윤홍권,남대철,Park, Jin-Sung,Jeong, Soon-Taek,Hwang, Sun-Chul,Kim, Dong-Hee,Gwark, Ji-Yong,Yoon, Hong-Kwon,Nam, Dae-Cheol 대한족부족관절학회 2013 대한족부족관절학회지 Vol.17 No.3

        Purpose: We investigated a statistical difference of tibial-articular surface (TAS) angles between radiographs of standing ankle anteroposterior (AP) and whole lower extremity view, and evaluated whether the tibial axis obtained from the standing ankle AP view reflects the original mechanical axis of lower extremity. Materials and Methods: Both the standing ankle AP and whole lower extremity view were taken from 60 legs of 30 healthy volunteers without a history of ankle surgery or deformity of lower limb. To determine the tibial axis, Takakura's and Hintermann's method were employed in the standing ankle AP view. To compare these results with the original TAS angle, ANOVA and multiple comparison test were used. Results: The mean TAS angle was 88.3 degrees(from hip joint to ankle), 89.5 degrees (from knee joint to ankle), 88.5 degrees (Takakura's method), and 90.2 degrees(Hintermann's method). Although there was a statistical significance (p=0.000) between these results, Takakura's method had no significant difference, compared to the results of whole extremity view by the multiple comparison test. Conclusion: The tibial axis obtained by Takakura's method reflects the original mechanical axis of lower extremity. When a surgical procedure is planned, however, it is necessary to consider that the ankle radiographs do not provide any information on the proximal deformity without the whole lower extremity view.

      • KCI등재

        습성 연령관련황반변성에서 유리체강 내 브롤루시주맙 주입술의 단기 결과 분석

        강민재,이승규,김예지,김해랑,곽지용,류선영,김도욱,박효송,한재용,김용준,최은영,변석호,김성수 한국망막학회 2022 Journal of Retina Vol.7 No.2

        Purpose: To assess effect of brolucizumab in Korean patients, and also analyze incidence of intraocular inflammation (IOI) rate, clinical features, treatment and prognosis. Methods: We reviewed EMR chart of history of brolucizumab injection patients retrospectively in Severance Hospital. Total 101 eyes of 92 patients were included. Patients consist of 80 wet age-related macular degeneration (wAMD) and 21 polypoidal choroidal vasculopathy (PCV). Demographic data, best corrected visual acuity (BCVA), anatomical features as central macular thickness, subretinal fluid (SRF), intraretinal fluid (IRF), height of pigment epithelium detachment (PED) through optical coherence tomography, incidence of IOI and their clinical feature, treatment, prognosis were assessed. Results: BCVA and subfoveal choroidal thickness of patients showed no statistical significancy. Central macular thickness, IRF and PED height showed statistically significant effect in 1 month after injection. SRF was improved significantly during 2 months of follow up. In subgroup analysis of PCV group, BCVA, subfoveal choroidal thickness, IRF showed no statistical significance. Central macular thickness and SRF showed improvement throughout 2 months. PED height showed 1 month of statistically significant effectiveness. There were six cases (5.9%) of IOI in total 101 eyes of brolucizumab injection cases. One case (0.99%) among IOI patients showed non-occlusive vasculitis. There was no case of occlusive vasculitis in our study. All cases were resolved after steroid treatment, topical or combination of topical and subtenon injection. Conclusions: Intravitreal injection of brolucizumab in Korean wAMD patients and PCV subgroups refractory to other anti-VEGF showed effectiveness in central macular thickness, IRF, SRF, and PED height. Incidence of IOI was 5.9% and no case of severe visual acuity deterioration. All IOI cases were resolved after topical or subtenon triamcinolone injection. 목적: 한국인 습성 연령관련황반변성 환자들에서 브롤루시주맙의 효과를 분석하고, 안내 염증의 빈도 및 양상, 치료, 예후를 알아보고자 하였다. 대상과 방법: 단일 의료기관에서 92명의 환자의 101안(80안의 습성 연령관련황반변성 및 21안의 결절 맥락막혈관병증)에 대하여 후향적으로 의무기록을 분석하였다. 인구학적 정보, 주사 전후의 최대교정시력, 빛간섭단층촬영으로 얻어진 망막하액, 망막내액의 여부 및망막색소상피박리의 높이 변화, 안내 염증의 빈도, 임상 양상, 치료, 예후에 대하여 분석하였다. 결과: 주사 전후 최대교정시력 및 황반하맥락막두께는 통계적 유의성을 보이지 않았다. 중심황반두께, 망막내액, 망막색소상피박리의높이는 주사 후 1달간, 망막하액은 2개월간 유의한 감소가 있었다. 결절맥락막혈관병증 환자를 소그룹 분석하였을 때 최대교정시력, 황반하 맥락막두께, 망막내액은 통계적 유의성을 보이지 않았으며 망막색소상피박리 높이는 주사 후 1개월간, 중심황반두께 및 망막하액은 2개월간 유의한 감소가 있었다. 6개의 안내 염증 증례가 있었으며(5.9%) 1개의 증례에서 비폐쇄성 혈관염이 발생하였다. 모든 증례는 스테로이드 안약 및 테논낭하 주사 술 후 호전되었다. 결론: 기존 치료에 반응이 부족한 습성 연령관련황반변성에서 브롤루시주맙 주사는 중심망막두께, 망막내액, 망막하액, 망막색소상피박리 높이의 유의한 감소를 보였다. 안내 염증의 빈도는 5.9%이고 심각한 시력저하는 발생하지 않았으며 스테로이드 안약 및 테논낭하주사 술 후 호전되었다.

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