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Purpose@#To examine the refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population. @*Materials and Methods@#A total of 98 patients with TSC were enrolled in Severance Hospital for a retrospective cohort study. The number of retinal astrocytic hamartoma and retinal achromic patch within a patient, as well as the size, bilaterality, and morphological type were studied. In addition, the refractive status of patients and the comorbidity of intellectual disability and epilepsy were also examined. @*Results@#Retinal astrocytic hamartoma was found in 37 patients, and bilateral invasion was observed in 20 patients (54%). TSC1 mutation was associated with myopia (p=0.01), while TSC2 mutation was associated with emmetropia (p=0.01). Retinal astrocytic hamartoma was categorized into three morphological types and examined as follows: type I (87%), type II (35%), and type III (14%). Single invasion of retinal astrocytic hamartoma was identified in 32% of the patients, and multiple invasions in 68%. The TSC1/ TSC2 detection rate was 91% (41/45). Among them, TSC1 variant was detected in 23 patients (54%), whereas TSC2 variant was detected in 18 patients (40%). The results showed that TSC2 mutations are correlated with a higher rate of retinal astrocytic hamartoma involvement (all p<0.05), and multiple and bilateral involvement of retinal hamartomas (all p<0.05). However, the size of retinal astrocytic hamartomas, comorbidity of epilepsy, or intellectual disability did not show correlation with the genetic variant. @*Conclusion@#TSC1 variant patients were more myopic, while TSC2 variant patients showed association with more extensive involvement of retinal astrocytic hamartoma.
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Purpose@#The advances in the treatment of retinoblastoma have enabled salvaging the globe in advanced stages with intra-arterial chemotherapy (IAC). We developed a strategy of alternate application of systemic intravenous chemotherapy (IVC) and IAC (referred to as alternate systemic IVC and IAC; ASIAC) to reduce central nervous metastases during IAC and examined its efficacy and safety in eye globe salvage in this study. @*Materials and Methods@#Between January 2010 and February 2021, 43 eyes of 40 patients received ASIAC treatment for retinoblastoma at the Yonsei Cancer Center, Yonsei University Health System. Their medical records were reviewed retrospectively to evaluate the eye salvage rate (ESR), defined from diagnosis to enucleation. High-risk retinoblastoma was defined as group D or E by the International Classification of Retinoblastoma. @*Results@#The study enrolled 38 and five cases of high-risk and low-risk retinoblastoma, respectively. In total, 178 IAC and 410 IVC courses were administered, with a median of 4 (interquartile range [IQR], 3.0 to 5.0) IAC and 9 (IQR, 6.0 to 11) IVC courses per eye, respectively. The 5-year ESR was 60.4%±8.7% for the whole cohort, 100% for low-risk retinoblastoma, and 53.6%±9.8% for high-risk retinoblastoma. Among those diagnosed since 2015, the 5-year ESR for high-risk retinoblastoma was 63.5%±14.0%. Fifteen eyes underwent enucleation; no viable tumor was found in three enucleated eyes. There were no deaths in this cohort. @*Conclusion@#Primary IAC-IVC (i.e., ASIAC) for patients with retinoblastoma was tolerable and effective in salvaging the eye and maintaining survival.
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Purpose@#We share and analyze the clinical presentations and genotypes of Korean male patients and female carriers who visited our clinic. @*Methods@#Six male patients and three female carriers with comprehensive ophthalmic examinations and next-generation sequencing were included. Detailed clinical features were identified using visual field (VF) test and multimodal imaging including color fundus photography, fundus autofluorescence (FAF), and optical coherence tomography (OCT). @*Results@#Six male patients were diagnosed with choroideremia at the median age of 25 years. Before genetic testing, three patients (50.0%) were clinically diagnosed with choroideremia, while the other three patients (50.0%) with retinitis pigmentosa. Patients showed different types of hemizygous CHM variants, including two nonsense variants, c.715C>T:p.(Arg239*) and c.799C>T:p.(Arg267*); two frameshift variants, c.1584_1587del:p.(Val529Hisfs*7) and c.403_404del:p.(Asp135Phefs*9); one splicing variant c.1511-28_1511-2del; and one exon 2-8 duplication. The latter three variants were novel. Two female carriers had heterozygous exon 2-8 duplication and the other one female carrier had heterozygous nonsense variant c.715C>T:p. (Arg239*). Fundus showed diffuse yellow-whitish scleral reflex and granular pigmented lesions. FAF showed multiple patchy hypofluorescence lesions, sparing macula. OCT showed thinning of outer nuclear layer, ellipsoid zone, retinal pigment epithelium layer, choroid thickness, interlaminar bridges, outer retinal tubulations, and microcysts in the inner nuclear layer. VF showed ring scotoma pattern with small amount of remaining central field. Asymptomatic female carriers showed variable fundus findings and mild changes in OCT. @*Conclusions@#A detailed description of the genotypes with three novel mutations and phenotypes of six choroideremia patients and three CHM mutation female carriers are presented.
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Purpose@#To evaluate the therapeutic effects and safety of oral spironolactone (SPRL) in patients with central serous chorioretinopathy (CSC). @*Materials and Methods@#The medical records and imaging data of patients diagnosed with CSC and treated with SPRL were retrospectively reviewed. Central macular thickness (CMT), subretinal fluid (SRF) height, subfoveal choroidal thickness (SFCT), and best-corrected visual acuity (BCVA) at baseline, at 1, 3, and 6 months, and at the last visit after the treatment were analyzed. @*Results@#In total, 103 patients with 107 eyes were included. The mean age of the patients was 51.5±9.3 years, and 77 (72.0%) were male. The mean follow-up duration was 48.6±40.2 weeks. The mean duration of oral SPRL therapy was 15.5±13.4 weeks. CMT, SRF height, and SFCT improved significantly at 1, 3, and 6 months after SPRL therapy and at the last follow-up. BCVA, however, showed no significant change at any time point. The rate of complete resolution of SRF at 1 month was higher in those with chronic CSC than in those with acute CSC (21.1% vs. 6.0%, respectively). Recurrence occurred in 14 (13.1%) eyes after the complete resolution of SRF. Older age (p=0.001), a greater number of previous intravitreal bevacizumab injections (p=0.006), and poor initial visual acuity (p=0.048) were associated with recurrence. No permanent adverse effects were observed. @*Conclusion@#Oral SPRL showed therapeutic benefits in patients with CSC in terms of SRF resolution, but relatively frequent recurrence was observed, especially in older patients.
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Purpose@#We sought to evaluate the long-term outcomes for patients with exudative age-related macular degeneration (AMD) undergoing vitrectomy for breakthrough vitreous hemorrhage and to investigate possible prognostic factors. @*Methods@#Consecutive patients treated at two high-volume referral-based tertiary hospitals between July 2006 and Decem-ber 2019 were retrospectively reviewed. Surgery was performed using the standard three-port vitrectomy. The primary out-come was the change in best-corrected visual acuity (BCVA) over long-term follow-up, while secondary outcomes included the assessment of possible prognostic factors. @*Results@#Among 50 eyes from 50 patients included in this study, 23 (46%) were diagnosed with polypoidal choroidal vascu-lopathy (PCV) and 27 (54%) were diagnosed with neovascular AMD. Preoperative vision at the time of vitreous hemorrhage onset was 20 / 3,027 (logarithm of the minimum angle of resolution [logMAR], 2.18 ± 0.34). At 12 months after surgery, the mean BCVA improved to 20 / 873 (logMAR, 1.64 ± 0.76; p < 0.001). At 24 months, the BCVA was 20 / 853 (logMAR, 1.63 ± 0.75; p < 0.001). Univariate analysis revealed that older age (odds ratio [OR], 0.879; p = 0.007] and the presence of submac-ular hemorrhage (OR, 0.081; p= 0.022) were factors associated with a poor 2-year visual outcome. Multivariable regression showed that older age (OR, 0.876; p= 0.026) and neovascular AMD (as compared with PCV) (OR, 0.137; p= 0.014) were significant negative factors influencing the 2-year visual outcome. The mean injection interval prior to vitrectomy was 4.53 months, which extended to 27.64 months after vitrectomy ( p = 0.028). @*Conclusions@#Younger age, the absence of submacular hemorrhage, and PCV type were associated with a favorable 2-year visual outcome after vitrectomy for vitreous hemorrhage in patients with exudative AMD. Overall, vitrectomy resulted in im-proved visual acuity and patients showed a decreased need for anti-vascular endothelial growth factor therapy thereafter.
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Purpose@#To understand the pathophysiology of Best disease (BD) and autosomal recessive bestrophinopathy (ARB) by establishing an in vitro model using human induced pluripotent stem cell (iPSC). @*Materials and Methods@#Human iPSC lines were generated from mononuclear cells in peripheral blood of one ARB patient, one autosomal dominant BD patient, and two normal controls. Immunocytochemistry and reverse transcriptase polymerase chain reactionin iPSC lines were conducted to demonstrate the pluripotent markers. After the differentiation of iPSC into functional retinal pigment epithelium (RPE), morphological characteristics of the RPE were evaluated using confocal microscopy and immunocytochemistry.The rates of fluid flow across iPSC-RPE monolayer were measured to compare apical to basal fluid transports by RPE. RNA sequencing was performed on iPSC-RPE to identify the differences in gene expression profiles, and specific gene sets were tested using Gene Set Enrichment Analysis. @*Results@#Morphological characteristics, gene expression, and epithelial integrity of ARB iPSC were comparable to those of BD patient or normal control. Fluid transport from apical to basal was significantly decreased in ARB iPSC-RPE compared with BD iPSCRPE or control iPSC-RPE. Gene Set Enrichment Analysis confirmed that ARB iPSC-RPE exhibited significant enrichments of epithelial-mesenchymal transition gene set and TNF-α signaling via NF-κB gene set compared to control iPSC-RPE or BD iPSC-RPE. @*Conclusion@#A human iPSC model of ARB showed a functional deficiency rather than anatomical defects. ARB may be caused by RPE dysfunction following BEST1 mutation.
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Purpose@#To evaluate the therapeutic effects and safety of oral spironolactone (SPRL) in patients with central serous chorioretinopathy (CSC). @*Methods@#Medical records and imaging data from consecutive patients diagnosed with CSC and treated with SPRL were reviewed. Changes in central macular thickness (CMT), subretinal fluids (SRF), subfoveal choroidal thickness (SFCT), and best corrected visual acuity (BCVA) were measured at baseline and follow-up visits. Follow-up visits were performed at 1, 3, 6, and 12 months after treatment. The patients were divided into two groups; acute and chronic, and the therapeutic outcomes were compared. The occurrence of side effects and recurrence after complete resolution of SRF were also assessed. @*Results@#A total of 42 patients with 45 eyes were included. CMT and SRF after using SPRL improved significantly at 1, 3, 6, and 12 months and SFCT improved at 3, 6, and 12 months. However, BCVA showed no significant change at any time. Acute patients showed similar results. However, in chronic patients, CMT showed significant differences at 1 and 3 months, SRF at 1 and 6 months, and SFCT at 6 months. A total of 15.6%, 38.2%, 45.8%, and 50.0% of eyes showed complete resolution of SRF at each follow-up period, respectively, and 8.9% of eyes showed recurrence after complete resolution. Two male patients experienced gynecomastia and one patient showed mild elevation of serum creatinine. @*Conclusions@#Our study supported the therapeutic benefits of SPRL in patients with CSC, especially in anatomical structures. However, careful observation is required because of side effects and recurrence after complete resolution.
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Purpose@#To evaluate the therapeutic effects and safety of oral spironolactone (SPRL) in patients with central serous chorioretinopathy (CSC). @*Methods@#Medical records and imaging data from consecutive patients diagnosed with CSC and treated with SPRL were reviewed. Changes in central macular thickness (CMT), subretinal fluids (SRF), subfoveal choroidal thickness (SFCT), and best corrected visual acuity (BCVA) were measured at baseline and follow-up visits. Follow-up visits were performed at 1, 3, 6, and 12 months after treatment. The patients were divided into two groups; acute and chronic, and the therapeutic outcomes were compared. The occurrence of side effects and recurrence after complete resolution of SRF were also assessed. @*Results@#A total of 42 patients with 45 eyes were included. CMT and SRF after using SPRL improved significantly at 1, 3, 6, and 12 months and SFCT improved at 3, 6, and 12 months. However, BCVA showed no significant change at any time. Acute patients showed similar results. However, in chronic patients, CMT showed significant differences at 1 and 3 months, SRF at 1 and 6 months, and SFCT at 6 months. A total of 15.6%, 38.2%, 45.8%, and 50.0% of eyes showed complete resolution of SRF at each follow-up period, respectively, and 8.9% of eyes showed recurrence after complete resolution. Two male patients experienced gynecomastia and one patient showed mild elevation of serum creatinine. @*Conclusions@#Our study supported the therapeutic benefits of SPRL in patients with CSC, especially in anatomical structures. However, careful observation is required because of side effects and recurrence after complete resolution.
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A 52-yr-old male was referred for progressive visual loss in the left eye. The decimal best-corrected visual acuity (BCVA) was 0.01. Fundus examination revealed diffuse retinal pigment epithelial degeneration, focal yellow-white, infiltrative subretinal lesion with fuzzy border and a live nematode within the retina. Diffuse unilateral subacute neuroretinitis (DUSN) was diagnosed and the direct laser photocoagulation was performed to destroy the live nematode. During eight months after treatment, BCVA gradually improved to 0.2 along with the gradual restoration of outer retinal layers on SD-OCT. We report on the first case of DUSN in Korea. DUSN should be included in the differential diagnosis of unexplained unilateral visual loss in otherwise healthy subjects.
Subject(s)
Animals , Humans , Male , Middle Aged , Blindness/diagnosis , Eye Infections, Parasitic/diagnosis , Fundus Oculi , Laser Therapy/methods , Light Coagulation/methods , Nematoda/pathogenicity , Republic of Korea , Retinal Pigment Epithelium/parasitology , Retinitis/diagnosis , Visual AcuityABSTRACT
A 52-yr-old male was referred for progressive visual loss in the left eye. The decimal best-corrected visual acuity (BCVA) was 0.01. Fundus examination revealed diffuse retinal pigment epithelial degeneration, focal yellow-white, infiltrative subretinal lesion with fuzzy border and a live nematode within the retina. Diffuse unilateral subacute neuroretinitis (DUSN) was diagnosed and the direct laser photocoagulation was performed to destroy the live nematode. During eight months after treatment, BCVA gradually improved to 0.2 along with the gradual restoration of outer retinal layers on SD-OCT. We report on the first case of DUSN in Korea. DUSN should be included in the differential diagnosis of unexplained unilateral visual loss in otherwise healthy subjects.
Subject(s)
Animals , Humans , Male , Middle Aged , Blindness/diagnosis , Eye Infections, Parasitic/diagnosis , Fundus Oculi , Laser Therapy/methods , Light Coagulation/methods , Nematoda/pathogenicity , Republic of Korea , Retinal Pigment Epithelium/parasitology , Retinitis/diagnosis , Visual AcuityABSTRACT
PURPOSE: To evaluate the efficacy and safety of primary intravitreal bevacizumab injection in stage 3 retinopathy of prematurity with plus signs. METHODS: We reviewed retrospectively the medical records of 30 eyes of 16 patients diagnosed with stage 3 retinopathy of prematurity with plus signs treated with primary intravitreal bevacizumab injection between March 1, 2011 and February 28, 2013 and followed up for at least 9 months. RESULTS: Mean gestational age was 26 + 4 weeks +/- 11 days and mean birth weight was 822 +/- 251.4 g. The locations of disease were zone II in 24 eyes and zone III in 6 eyes. Intravitreal bevacizumab injection was performed after the mean 1.3 +/- 1 day after plus signs were detected. Mean postconceptional age at treatment was 38 + 2 weeks +/- 16 days. Mean follow-up period was 16.6 +/- 6.9 months. Plus signs started to regress after the mean 4.6 +/- 2.3 days after injection and completely regressed after the mean 24.3 +/- 12.4 days. Cataract extraction was performed in 1 eye due to a cataract that appeared not associated with the injection procedure, but was regarded as a treatment failure. There were no local or systemic complications. CONCLUSIONS: Primary intravitreal bevacizumab injection in stage 3 retinopathy of prematurity with plus signs demonstrated excellent short-term efficacy and safety.
Subject(s)
Humans , Birth Weight , Cataract , Cataract Extraction , Follow-Up Studies , Gestational Age , Medical Records , Retinopathy of Prematurity , Retrospective Studies , Treatment Failure , BevacizumabABSTRACT
PURPOSE: To compare clinical, angiographic, and optical coherence tomographic characteristics between eyes with acute Vogt-Koyanagi-Harada (VKH) disease and eyes with acute bilateral central serous chorioretinopathy (CSC), and to demonstrate distinguishing features between the two diseases in confusing cases. METHODS: The medical records of 35 patients with VKH disease and 25 patients with bilateral CSC were retrospectively reviewed. Characteristics according to slit-lamp biomicroscopy, ophthalmoscopy, fundus photography, fluorescein angiography, indocyanine green angiography, and spectral-domain optical coherence tomography were compared between the two diseases. RESULTS: Five of 35 patients (10 of 70 eyes, 14.3%) with VKH disease were initially misdiagnosed as CSC patients, and six of 25 patients (12 of 50 eyes, 24%) with bilateral CSC were initially misdiagnosed as patients with VKH disease. Pigment epithelial detachment in CSC and optic disc hyperemia in VKH disease show the highest positive predictive values of 100% for each disease. CONCLUSIONS: Optic disc hyperemia in VKH disease and pigment epithelial detachment in bilateral CSC are the most specific clinical manifestations of each disease at initial patient presentation.
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Acute Disease , Central Serous Chorioretinopathy/diagnostic imaging , Fluorescein Angiography , Hyperemia/diagnosis , Indocyanine Green/administration & dosage , Multimodal Imaging , Ophthalmoscopy , Optic Disk/blood supply , Photography , Retinal Detachment/diagnosis , Retinal Pigment Epithelium/pathology , Retrospective Studies , Slit Lamp Microscopy , Tomography, Optical Coherence , Uveomeningoencephalitic Syndrome/diagnostic imagingABSTRACT
PURPOSE: To investigate the effects of resveratrol on the expression of hypoxia-inducible factor 1alpha (HIF-1alpha) and vascular endothelial growth factor (VEGF) in human adult retinal pigment epithelial (ARPE-19) cells, and on experimental choroidal neovascularization (CNV) in mice. MATERIALS AND METHODS: ARPE-19 cells were treated with different concentrations of resveratrol and then incubated under hypoxic conditions with subsequent evaluation of cell viability, expression of HIF-1alpha, and expression of VEGF. The effects of resveratrol on the synthesis and degradation of hypoxia-induced HIF-1alpha were evaluated using inhibitors of the PI3K/Akt/mTOR and the ubiquitin proteasome pathways. In animal studies, CNV lesions were induced in C57BL/6 mice by laser photocoagulation. After 7 days of oral administration of resveratrol or vehicle, which began one day after CNV induction, image analysis was used to measure CNV areas on choroidal flat mounts stained with isolectin IB4. RESULTS: In ARPE-19 cells, resveratrol significantly inhibited HIF-1alpha and VEGF in a dose-dependent manner, by blocking the PI3K/Akt/mTOR signaling pathway and by promoting proteasomal HIF-1alpha degradation. In mice experiments, orally administered resveratrol significantly inhibited CNV growth in a dose-dependent manner. CONCLUSION: Resveratrol may have therapeutic value in the management of diseases involving pathological neovascularization.
Subject(s)
Adult , Animals , Humans , Mice , Hypoxia/metabolism , Cell Survival/drug effects , Choroidal Neovascularization/metabolism , Hypoxia-Inducible Factor 1, alpha Subunit/drug effects , Mice, Inbred C57BL , Phosphatidylinositol 3-Kinases/antagonists & inhibitors , Proteasome Endopeptidase Complex , Proto-Oncogene Proteins c-akt/antagonists & inhibitors , Retinal Pigment Epithelium/drug effects , Signal Transduction , Stilbenes/administration & dosage , TOR Serine-Threonine Kinases/antagonists & inhibitors , Ubiquitin , Vascular Endothelial Growth Factor A/drug effectsABSTRACT
PURPOSE: To investigate the reproducibility of choroidal thickness measurements in healthy Koreans using two spectral domain optical coherence tomography (SD-OCT) instruments: Zeiss Cirrus HD-OCT (Carl Zeiss Meditec Inc., Dublin, CA, USA) and Heidelberg Spectralis (Heidelberg Engineering, Heidelberg, Germany). METHODS: Images were obtained in 60 eyes of 30 healthy undilated volunteers without ocular pathology in a clinical setting. The choroid was imaged in all subjects using Cirrus HD 1-line raster and Spectralis enhanced depth imaging (EDI). The choroid was measured subfoveally, 1500 microm temporal, and 1500 microm nasal to the fovea. All measurements were performed by two independent observers. One-way analysis of variance (ANOVA), Pearson correlation, and Bland-Altman analysis were used to compare measurements. RESULTS: The study group consisted of 15 males and 15 females. The mean age was 50.73 +/- 15.09 years (range, 24-75 years). There was no significant difference in the mean choroidal thickness (p > 0.05) between systems for any location. The choroidal thickness measurements using two instruments (Cirrus vs. Spectralis) were also strongly correlated (p < 0.001). CONCLUSIONS: In the present study of healthy Korean adults, good reproducibility was observed between choroidal thickness measurements of images obtained from Cirrus and Spectralis.
Subject(s)
Adult , Female , Humans , Male , Choroid , Eye , Reproducibility of Results , Tomography, Optical CoherenceABSTRACT
PURPOSE: To characterize epidemiologically open-globe injuries and to identify prognostic factors for visual outcomes after open-globe injuries in Korea. METHODS: The medical records of 138 patients with open-globe injuries presenting to the Severance Hospital between January 2005 and June 2011 were retrospectively reviewed. RESULTS: Out of 138 patients, 85.5% were men. The types of injury included penetrating injury (44.2%), intraocular foreign body (15.9%), blunt injury (35.5%), and perforating injury (3.6%). The most common cause of injury was accidents at work (49.3%) and 60.9% of these injuries were a penetrating wound in zone I limited to the cornea. Predictors of poor visual outcome using univariate analysis included wound extended to posterior sclera, wound length of 10 mm or more, poor initial visual acuity of hand motion or less, and presence of associated ocular injuries at presentation including hyphema, lens injury, vitreous hemorrhage, and retinal detachment. Initial visual acuity and wound size were independent prognostic factors of visual outcome. CONCLUSIONS: Accidents at work are the most important cause of open-globe injuries in Korea. Accordingly, protective measures such as appropriate eyewear and safety education at work are warranted. Initial visual acuity and wound size predicted favorable visual outcome.
Subject(s)
Humans , Male , Cornea , Foreign Bodies , Hand , Hyphema , Korea , Medical Records , Retinal Detachment , Retrospective Studies , Sclera , Visual Acuity , Vitreous Hemorrhage , Wounds, Nonpenetrating , Wounds, PenetratingABSTRACT
We report a case of ciliary body melanocytoma in a Korean patient, which presented as an intermittently painful pigmented iris mass and was successfully managed by iridocyclectomy. A 52-year-old healthy man presented with an irregularly-shaped and heavily-pigmented mass at the iris root of his right eye. Visual acuity of the right eye was 20/20 with normal intraocular pressure. Ultrasound biomicroscopy showed a 1.5x1.3-mm ciliary-body mass with extension into the iris root. Iridocyclectomy with scleral resection under a lamellar scleral flap was performed, and the histopathologic features of the resected tissue were consistent with melanocytoma of the ciliary body. The patient's visual acuity remained 20/20 with good postoperative cosmesis. During one year of follow-up, no signs of tumor recurrence were seen, and the patient reported resolution of the intermittent ocular pain in the involved eye.