Retinal Artery and Vein Occlusion Risks after Coronavirus Disease 2019 or Coronavirus Disease 2019 Vaccination.

PURPOSE: To evaluate the incidence of new retinal artery occlusion (RAO) and retinal vein occlusion (RVO) after the diagnosis of coronavirus disease 2019 (COVID-19) or vaccination against COVID-19 and compare the incidences with the population with neither. DESIGN: Nationwide population-based cohort study. PARTICIPANTS: From a nationwide population-based cohort, 8 418 590 patients were categorized into control (group 1), COVID-19 infection (group 2), and COVID-19 vaccination (group 3) groups. METHODS: The cumulative incidence of RAO and RVO was calculated in groups 1, 2, and 3 using the Kaplan-Meier method. We calculated hazard ratios (HRs) and 95% confidence intervals (CIs) based on the Poisson distribution for RAO and RVO according to each group and subgroup using Cox proportional hazards models, with group 1 as the reference. We conducted univariable and multivariable analyses for the risk factors of RAO and RVO according to each subgroup. MAIN OUTCOME MEASURES: Cumulative incidence and risks of incidence of RAO and RVO from the index date to day 60. RESULTS: In multivariable analysis, no significant increase in RAO and RVO risks after COVID-19 or COVID-19 vaccination were observed in either men or women. These results were observed consistently across various conditions in sensitivity analyses. In subgroup analysis, individuals who were vaccinated before infection showed no significant increase in RAO or RVO risks in both sexes compared with the control group. In the subgroup analysis of vaccinated patients, the HRs of RAO and RVO for different vaccine types did not show an increase compared with the control group; however, an exception was observed in women who received mRNA-1273 vaccines, who showed a higher RAO HR (4.65; 95% CI, 1.27-17.03; P = 0.021). CONCLUSIONS: Within 60 days of COVID-19 diagnosis or vaccination, RAO and RVO occurred rarely. We observed no increase in the HR of RVO and RAO relative to COVID-19 or COVID-19 vaccination except for a possible increase in the RAO HR in women who received mRNA-1273, for which the raw incidence was extremely low. Further investigation is required to validate this result. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Clinical factors and predictors for spontaneous separation of epiretinal membranes.

PURPOSE: To investigate the clinical characteristics, imaging features, and predictive factors for spontaneous separation in patients with idiopathic or secondary ERM. METHODS: The overall cohort was divided into two subgroups: idiopathic ERM (28 eyes, 56%) and secondary ERM (22 eyes, 44%). Electronic records and multimodal imaging were reviewed. RESULTS: Among the 50 eyes included in this study, the self-separation of ERM occurred over a mean duration of 28.1 ± 25.3 months (median: 25.4 months). Compared with the secondary ERM group, the idiopathic group had a shorter interval to separation (idiopathic vs. secondary, 23.4 vs. 34.1 months, respectively; P = .01) and better vision at diagnosis (logMAR 0.094 vs. 0.224; P = .009) and after separation (logMAR 0.097 vs. 0.188; P = .01). Overall, in both subgroups, spontaneous ERM separation appeared to have been induced by posterior vitreous detachment (PVD) (P < .001). Multivariate analysis revealed that the self-separation interval (odds ratio [OR] 0.936) and IRF (OR 0.049) were significantly associated with complete ERM separation (all P < .05). Additionally, secondary ERM (OR 15.224) and lower initial best-corrected visual acuity (OR 267.589) were significantly associated with improvements in vision after self-separation (all P < .05). CONCLUSION: The self-separation of ERM appears to be induced by PVD development in most eyes. Owing to the possibility of complete spontaneous separation, surgical membrane peeling may be delayed by up to 28 months in eyes without PVD, regardless of whether the cause is idiopathic or secondary. Patients with secondary ERM may experience favorable visual improvement after self-separation despite having poor vision at diagnosis and IRF on OCT. KEY MESSAGES: What is known • An epiretinal membrane (ERM), the most prevalent retinal disease in adults, is less understood regarding clinical factors and the accurate mechanism of spontaneous separation. What is new • The separation of ERM appears to be induced by PVD development in most eyes. • Favorable vision outcomes were associated with secondary ERMs and lower initial visual acuity. • Complete ERM separation was associated with a shorter self-resolution interval and the absence of intraretinal fluid (IRF) in OCT imaging.

EXPLORING THE CHALLENGES OF DISTINGUISHING PUNCTATE INNER CHOROIDOPATHY FROM MULTIFOCAL CHOROIDITIS AND PANUVEITIS.

PURPOSE: This retrospective case series aimed to assess the concordance between clinical diagnoses of punctate inner choroidopathy and multifocal choroiditis and panuveitis (MCP) using the 2021 Standardization of Uveitis Nomenclature Working Group criteria. METHODS: Using the medical records of the patients, the authors reevaluated 100 eyes of 75 patients with idiopathic multifocal chorioretinal inflammatory lesions based on Standardization of Uveitis Nomenclature criteria and compared the result with the clinical diagnosis. RESULTS: Of 100 eyes, 29 eyes (29%) were diagnosed as punctate inner choroidopathy and 15 eyes (15%) were diagnosed as MCP using Standardization of Uveitis Nomenclature criteria, and 56 (56%) eyes could not be diagnosed as either. Clinically diagnosed punctate inner choroidopathy eyes were significantly more myopic than the clinically diagnosed MCP eyes (mean spherical equivalent -6.65 ± 4.63 vs. -3.85 ± 2.31, P = 0.01). Sixteen eyes with vitreous inflammation were all clinically diagnosed as MCP, but four (25%) could not be diagnosed as MCP using Standardization of Uveitis Nomenclature criteria. CONCLUSION: The existing diagnostic criteria showed limitations in capturing all clinical cases of punctate inner choroidopathy or MCP, and adding or revising criteria on features such as vitreous inflammation or myopia could be considered to enhance diagnostic accuracy.

CLINICAL FEATURES AND PROGNOSTIC VALUE OF BACILLARY LAYER DETACHMENT IN ACUTE VOGT-KOYANAGI-HARADA DISEASE.

PURPOSE: To evaluate the characteristics of bacillary layer detachment (BALAD) in acute Vogt-Koyanagi-Harada (VKH) disease and determine its prognostic value. METHODS: Seventy patients with acute VKH disease with a minimum follow-up of 6 months were studied. The primary outcomes were clinical characteristics associated with BALAD, including features on multimodal imaging at baseline and follow-up. The secondary outcomes included best-corrected visual acuity and VKH with recurrence features. RESULTS: Of 70 eyes (36 patients), 41 (58.6%) showed BALAD. The mean baseline best-corrected visual acuity and mean best-corrected visual acuity after resolution of serous retinal detachment were significantly lower in the BALAD group than in the no-BALAD group (0.90 ± 0.49 vs. 0.35 ± 0.35 log minimum angle of resolution, P < 0.001 and 0.39 ± 0.27 vs. 0.20 ± 0.20 log minimum angle of resolution, P = 0.020). The loss of ellipsoid zone integrity at baseline, proportion of serous retinal detachment, duration of serous retinal detachment, loss of ellipsoid zone integrity at 1 month, and subfoveal choroidal thickness at baseline were significantly higher in the BALAD group ( P = 0.017, P = 0.006, P = 0.023, P = 0.002, and P = 0.046, respectively). The mean best-corrected visual acuity and subfoveal choroidal thickness did not differ between the two groups at 6 months ( P = 0.380 and P = 0.180, respectively). Bacillary layer detachment at baseline was found to be a significant prognostic factor for VKH with recurrence features ( P = 0.007). CONCLUSION: Vogt-Koyanagi-Harada with BALAD featured more severe clinical characteristics than VKH without BALAD during the acute phase. Patients with baseline BALAD require more vigilant monitoring as they are more likely to show recurrence features within the first 6 months.

BILATERAL MACULAR CHOROIDAL ABNORMALITIES WITH DRUSENOID DEPOSITS IN PATIENTS WITH UNILATERAL PERIPHERAL EXUDATIVE HEMORRHAGIC CHORIORETINOPATHY.

PURPOSE: To investigate bilateral macular features on optical coherence tomography in patients with unilateral peripheral exudative hemorrhagic chorioretinopathy (PEHCR). METHODS: In this cross-sectional study, optical coherence tomography features of affected eyes (PEHCR group, n = 30) and unaffected contralateral eyes (contralateral group, n = 30) were investigated. Age-matched and sex-matched patients with polypoidal choroidal vasculopathy (PCV group, n = 51) and healthy controls (normal group, n = 50) were included to compare choroidal thickness, measured at six points apart from the fovea, with the PEHCR group. RESULTS: Subretinal drusenoid deposits were the most common feature in the PEHCR (20%) and contralateral (23%) groups, followed by soft drusen. Although the macular choroid was comparably thin in both the PEHCR and contralateral groups, pachyvessels were also observed. The choroids of the PEHCR group were significantly thinner than those of the normal group at the subfovea and 1-mm temporal to the fovea and considerably thinner than those of the polypoidal choroidal vasculopathy group from 3-mm nasal to 3-mm temporal to the fovea. CONCLUSION: In patients with unilateral PEHCR, bilateral choroidal thinning and drusenoid deposit accumulation were noted in the macula. The pathophysiology of PEHCR may be a rare peripheral complication of age-related macular degeneration with pathologic choroid.

Clinical Characteristics of recurrent intraocular lens dislocation after scleral-fixated sutured intraocular lens and long-term outcomes of intraocular lens re-fixation.

PURPOSE: This study aimed to investigate the clinical characteristics of patients with recurrent intraocular lens (IOL) dislocation after scleral-fixated sutured IOL implantation and evaluate the long-term outcomes of scleral re-fixation of IOL. METHODS: The medical records of patients who underwent surgery for IOL dislocation between January 2011 and January 2021 were reviewed. The study included 164 patients (male: 131, female: 33) (176 eyes). Patient demographics, preoperative, intraoperative and postoperative data, and the ocular and systemic conditions associated with IOL re-dislocation were analyzed. RESULTS: The study included 176 consecutive cases of scleral-fixated sutured IOL. Twenty-six eyes (14.8%) showed re-dislocation of IOL after the initial IOL scleral fixation and underwent reoperation (mean 75.5 ± 62.5 months after the first surgery); three (11.5%) of them required a third surgery. Younger adults (aged less than 40 years), and patients who underwent IOL scleral fixation in complicated cataract surgery or aphakic state had a higher risk of re-dislocation. Diabetes mellitus (DM) was the only statistically significantly higher risk factor in the re-dislocated group (p = 0.041). The complication rate with scleral re-fixation was higher than that in the non-re-dislocated group. No statistically significant differences were observed, except for vitreous hemorrhage (p = 0.024). CONCLUSIONS: Caution should be exercised when performing sutured scleral fixation of IOL in younger patients, cases of complicated cataract surgery and aphakia, and patients with DM to prevent IOL re-dislocation. Scleral-fixated sutured IOL in eyes with recurrent IOL dislocation seems to be a safe and effective procedure with a relatively low complication rate.

Clinical features, treatment factors, and long-term outcomes of optic disc pit maculopathy.

PURPOSE: To assess the clinical features, treatment factors, and long-term visual and anatomical outcomes of optic disc pit maculopathy (ODPM) in Korean patients. METHODS: Consecutive patients diagnosed between January 2000 and September 2020 were retrospectively reviewed. The primary outcome was best-corrected visual acuity (BCVA) and anatomical changes (determined by macular thickness reduction and fluid resorption). Secondary outcomes included factors associated with poor visual outcomes (> 3-line decrease or < 20/200 vision). RESULTS: Of the 24 eyes (24 patients, mean age, 42.8 years) in this study, two peak incidence groups were noted: children younger than 14 years (six patients; mean age, 9.7 years) and middle-aged adults (18 patients; 53.8 years). There were no significant differences between groups in terms of clinical features, treatment, and outcomes (P > 0.05). The primary treatment involved immediate (7 eyes) or delayed (9) vitrectomy, laser only (2), or observation only (6). Good (50%) or partial (33%) anatomical response was noted in most cases at the final follow-up (P > 0.05). However, regression analyses showed that poor visual outcomes were associated with low preoperative BCVA (OR, 8.73; 95%CI, 1.34-56.85; P = 0.023) and delayed vitrectomy (OR, 13.00; 95%CI, 1.70-99.38; P = 0.013), while presence of intraretinal fluid in the inner and outer layers reduced the risk (OR, 0.086; 95%CI, 0.01-0.88; P = 0.039). CONCLUSION: Patients with ODPM may have two peak incidence groups with similar clinical features and treatment outcomes, supporting the idea of heterogeneous mechanisms triggering fluid accumulation. Although the primary treatment choice may not impact long-term anatomical outcomes, delayed vitrectomy may be associated with poorer visual outcomes.

Complications, treatments, and visual prognosis of choroidal osteomas.

PURPOSE: This study aims to report complications, treatments, and visual prognosis of choroidal osteoma. METHODS: We retrospectively reviewed electronic medical records and multimodal images of 41 patients with choroidal osteoma. RESULTS: Visually significant complications included choroidal neovascularization (CNV) in 21 (47.7%) eyes and subretinal fluid (SRF) without CNV in 14 (31.8%) eyes. The most common treatment was intravitreal anti-vascular endothelial growth factor (VEGF) injection: 13 (61.9%) eyes with CNV received an average of 6.3 injections, and 6 (42.9%) eyes with SRF but without CNV received 1.8 injections. As the first-line treatment, intravitreal anti-VEGF injection induced complete or partial remission in 93.4% of eyes with CNV and 57.1% of eyes with SRF. The probability of legally low vision estimated at 3 and at 5 years was 29.1% and 34.2%, respectively. The presence of CNV and outer retinal tubulation (ORT) was independent risk factors for vision loss (adjusted odds ratio, 8.08 and 6.94, respectively). CONCLUSIONS: The development of CNV and ORT was strong risk factors for visual impairment. Due to the frequent recurrence of complications and poor visual prognosis, regular check-ups and appropriate treatment choices are warranted.

Therapeutic prognostic factors associated with retinal detachment and visual outcomes in acute retinal necrosis.

BACKGROUND: Acute retinal necrosis (ARN) is a fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of vision loss. Prognostic factors associated with the treatment of ARN have not been comprehensively identified. This study aimed to determine therapeutic prognostic factors associated with long-term clinical outcomes in eyes with ARN. METHODS: This retrospective cohort study included patients with ARN who were treated between 2005 and 2019 in two tertiary ophthalmology departments in Seoul, Korea. Multiple logistic regression analysis was performed to investigate prognostic factors associated with late-onset retinal detachment (RD) and vision loss (<20/200). RESULTS: Sixty-one eyes with ARN with an average follow-up of 63.5 months were included. Surgical intervention of vitrectomy (odds ratio [OR], 0.04; 95% confidence interval [CI], 0.004-0.47) and intraoperative prophylactic laser use (OR, 0.14; 95% CI, 0.02-0.81) were independently associated with a decreased risk of late RD. The factors independently associated with an increased risk of vision loss were worse initial visual acuity (OR, 3.28; 95% CI, 1.50-7.21), zone 1 involvement of necrotic retinitis (OR, 10.84; 95% CI, 1.62-72.41), and late-onset RD (OR, 5.38; 95% CI, 1.92-31.54). CONCLUSION: Vitrectomy and/or prophylactic intraoperative laser treatment may be effective treatment options in preventing delayed RD associated with an increased risk of vision loss in eyes with ARN.

Clinical characteristics of endogenous Klebsiella pneumoniae endophthalmitis: a 13-year experience.

PURPOSE: This study aimed to investigate the clinical features and risk factors for poor visual outcomes in patients with endogenous Klebsiella pneumoniae endophthalmitis (EKE). METHODS: This retrospective interventional case series reviewed the medical records of 17 patients (21 eyes) with EKE from January 2007 to December 2019. Clinical findings, treatments, visual outcomes, and potential prognostic factors were evaluated. RESULTS: The mean age of the patients was 55.9 years and 13 patients (76.5%) were males. Diabetes (23.5%) was the most commonly associated systemic disease and liver abscess (70.6%) was the major infection source. Poor initial visual acuity worse than counting fingers was significantly associated with poor final visual outcome (p = 0.003). In this study, adjunctive intravitreal dexamethasone injection and primary vitrectomy were not associated with final visual outcome. Secondary enucleation/evisceration was performed in 14.3%. CONCLUSIONS: EKE usually has a poor visual prognosis, and early diagnosis with fair initial visual acuity would be crucial in saving vision.

Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations.

The PAX6 is essential for ocular morphogenesis and is known to be highly sensitive to changes in gene expression, where neither over- nor under-expression ensures normal ocular development. Two unrelated probands with classical aniridia who were previously considered "PAX6-negative", were studied by whole-genome sequencing. Through the use of multiple in silico deep learning-based algorithms, we identified two novel putative causal mutations, c.-133_-132del in the 5' untranslated region (5'-UTR) and c.-52 + 5G>A in an intron upstream of the PAX6 gene. The luciferase activity was significantly increased and VAX2 binding was disrupted with the former 5'-UTR variant compared with wild-type sequence, which resulted in a striking overexpression of PAX6. The minigene assay showed that the c.-52 + 5G>A mutation caused defective splicing, which resulted in the formation of truncated transcripts.

Pachydrusen, choroidal vascular hyperpermeability, and punctate hyperfluorescent spots.

PURPOSE: To investigate the relationship between pachydrusen and features of choroidal vascular hyperpermeability (CVH) and punctate hyperfluorescent spots (PHS) on serial imaging in patients with polypoidal choroidal vasculopathy (PCV) or pachychoroid neovasculopathy (PNV). METHODS: Patients diagnosed between January 2007 and June 2016 at 2 high-volume, tertiary hospitals were retrospectively reviewed with serial multimodal imaging assessment. The primary outcome was the association between drusen subtypes (hard/soft drusen, subretinal drusenoid droplets, or pachydrusen) with CVH and PHS, previously described in central serous chorioretinopathy. RESULTS: Among the 105 eyes (105 patients; mean age, 67.0 years), 87 (82.9%) were diagnosed with PCV and 18 (17.1%) with PNV. Pachydrusen was the most frequently identified subtype (54 eyes, 51.4%). CVH (72.2% vs 41.4%, P = 0.021) and PHS (72.2% vs 44.8%, P = 0.041) were observed with greater frequency in PNV eyes. Significant correlations were found between CVH and PHS (phi coefficient φ 0.30, P = 0.003), and PHS with pachydrusen (φ 0.20, P = 0.040). Over a mean follow-up of 74.8 months, new drusen co-localizing to PHS were noted in 22 (21.0%) eyes (φ 0.54, P < 0.001). CONCLUSION: We observed a trend of pachydrusen appearing in conjunction with PHS in PCV or PNV. Frequent localization of new drusen to these choroidal lesions was observed over long-term follow-up. PHS may be a form of late-staining "forme fruste" drusen, possibly associated with micro-ischemic changes to the choriocapillaris.

Relationship between Coronary Artery Calcification and Central Chorioretinal Thickness in Patients with Subclinical Atherosclerosis.

PURPOSE: To evaluate the relationship between coronary artery calcification and subfoveal thicknesses of individual chorioretinal layers in subjects with subclinical atherosclerosis by using enhanced-depth imaging optical coherence tomography. METHODS: In this retrospective, noninterventional, cross-sectional study, we included 193 eyes from 193 subjects and divided them into three cardiovascular (CV) risk groups based on coronary artery calcification (CAC) scores calculated from cardiac-gated computed tomography: low (CAC = 0; n = 77), intermediate (CAC = 1-300; n = 83), and high (CAC >300; n = 33). Central macula individual retinal layer thicknesses and subfoveal choroidal thickness were measured and compared among groups. Multivariate linear regression was used to evaluate associations of subfoveal choroidal thickness or central retinal thickness with CAC scores. RESULTS: Average subfoveal choroidal thickness differed significantly among low, intermediate, and high CV risk groups (all p < 0.05). There were no statistically significant changes in segmented retinal layer thickness of the central macula. Multivariate regression analyses showed that higher CAC scores were significantly negatively associated with subfoveal choroidal thickness (ß = -2.169, p < 0.001). CONCLUSIONS: Higher CAC scores were significantly associated with subfoveal choroidal thinning in subjects with subclinical atherosclerosis. Prominent reductions in the subfoveal choroidal layer could provide a useful biomarker for predicting CV risk in patients of advanced age with subclinical atherosclerosis.

Comparison of long-term surgical outcomes for scleral-fixated versus retropupillary iris-claw intraocular lens.

BACKGROUND: To compare the clinical features and long-term treatment outcomes of patients undergoing secondary intraocular lens (IOL) surgery with scleral-fixated (SFIOL) versus retropupillary iris-claw IOL (RPICIOL). METHODS: Consecutive patients treated between June 2014 and December 2019 at two tertiary centres were retrospectively reviewed. The primary outcome was the best-corrected visual acuity (BCVA). Secondary outcomes included factors associated with significant corneal endothelial injury and postoperative redislocation. RESULTS: This study included 395 eyes undergoing surgery with SFIOL (237 eyes, 60%) or RPICIOL (158 eyes, 40%), with no differences in baseline BCVA (p = 0.76) or endothelial cell density (ECD) (p = 0.39). Compared with the SFIOL group, the RPICIOL group had faster visual recovery (postoperative month 1, 20/37 vs. 20/46, p = 0.005) sustained to over 36 months (p = 0.034), favourable absolute prediction errors (within 0.5D, 67.3% vs. 54.9%, p = 0.027), and shorter operation times (52.7 vs. 60.9 min, p = 0.015). There was no difference in ECD after 12 months (P = 0.282). Over a mean follow-up duration of 33 months (152 cases >3 years, 38.5%), the SFIOL group experienced more cases of tilted/decentred IOLs (14 vs. 1, p = 0.006), suture exposure (7 vs. 0, p = 0.045), and redislocation (17.7% vs. 10.1%, p < 0.001). Multivariable regression showed that a final BCVA below 20/40 was associated with SFIOL (P = 0.007), older age (p = 0.001), intraoperative complications (p = 0.002), past history of vitrectomy/glaucoma surgery or uveitis (p = 0.046), and surgically induced astigmatism >1D (p = 0.029). CONCLUSIONS: RPICIOL appears to be a safe and effective surgical option for secondary IOL surgery over a long-term follow-up, comparing favourably against conventional SFIOL.

Factors associated with ocular adverse event after immune checkpoint inhibitor treatment.

Ocular adverse events (OAEs) including vision-threatening intraocular inflammation after immune checkpoint inhibitor (ICI) treatment have been increasingly reported; however, the risk factors associated with OAEs remain elusive. Here, we determined the factors associated with OAEs after ICI treatment. We analyzed 40 consecutive patients who experienced OAEs after ICI treatments. The OAEs included anterior uveitis, chorioretinitis, papillitis, foveal interdigitation zone thickening/serous retinal detachment (IZT/SRD), retinal vascular occlusion, and strabismus and ptosis. Of 40 patients, 18 (45%) were treated with atezolizumab, 13 (33%) with pembrolizumab, 7 (18%) with nivolumab, 1 (3%) with ipilimumab/nivolumab, and the other 1 (3%) with durvalumab/tremelimumab. BRAF/MEK inhibitors were concurrently used in 19 (48%) patients. Occurrence of intraocular inflammation was significantly associated with previous ocular surgery and trauma history (P = 0.015) and pembrolizumab use (P = 0.031). Neuro-ophthalmic complications and IZT/SRD were associated with brain metastasis (P = 0.005) and treatment with BRAF/MEK inhibitor (P < 0.001), respectively. In extensive literature review for clinical cases, we identified seven cases with intraocular inflammation, which were not observed with ipilimumab treatment, that occurred after a change of the drug to pembrolizumab. Collectively, these findings provide better understandings of OAEs after ICI treatment.

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.

Purpose: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype-phenotype correlation in a Korean cohort. Methods: This single-center retrospective case series included 50 Korean patients with LCA between June 2015 and March 2019. Molecular analysis was conducted using targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing. The molecular diagnosis was made based on the inheritance pattern, zygosity, and pathogenicity. Results: Among the 50 patients, 27 patients (54%) were male, and 11 (22%) showed systemic features. Genetic variants highly likely to be causative were identified in 78% (39/50) of cases and segregated into families. We detected two pathogenic or likely pathogenic variants in a gene linked to a recessive trait without segregation analysis in three cases (6.0%). GUCY2D (20%), NMNAT1 (18%), and CEP290 (16%) were the most frequently mutated genes in Korean LCA. Copy number variations were found in three patients, which accounted for 6% of LCA cases. A possible dual molecular diagnosis (Senior-Løken syndrome along with Leigh syndrome, and Joubert syndrome with transposition of the great arteries) was made in two patients (4%). Three of 50 patients were medically or surgically actionable: one patient for RPE65 gene therapy and two patients with WDR19 Senior-Løken syndrome for early preparation for kidney and liver transplantations. Conclusions: This study demonstrated that approximately 4% of patients may have dual molecular diagnoses, and 6% were surgically or medically actionable in LCA. Therefore, accurate molecular diagnosis and careful interpretation of next-generation sequencing results can be of great help in patients with LCA.

HIGHER-ORDER ABERRATIONS IN EYES WITH SILICONE OIL TAMPONADE.

PURPOSE: To investigate the changes in higher-order aberrations (HOAs) after silicone oil removal and to evaluate their associations with visual acuity. METHODS: Fifty-nine eyes of 58 patients who underwent SO removal were included. Total, corneal, and internal optic HOAs, and best-corrected visual acuity were measured before and 1 month after SO removal, and changes were compared between phakic and pseudophakic eyes. RESULTS: Total ocular and internal optic HOAs decreased significantly after SO removal both in pseudophakic (n = 40, all P < 0.001) and phakic eyes (n = 19, P = 0.017, P = 0.004). Preoperative HOAs (P < 0.001) and changes in HOAs (P = 0.006) were greater in pseudophakic eyes than in phakic eyes. Best-corrected visual acuity was significantly improved after SO removal, from 20/105 to 20/78 (P < 0.001) in pseudophakic eyes, whereas there was no difference in phakic eyes (P = 0.714). Preoperative HOAs and the reduction in HOAs after SO removal were greater in best-corrected visual acuity-improved eyes than best-corrected visual acuity-unchanged eyes (P < 0.001). CONCLUSION: Silicone oil tamponade induced an increase in HOAs, and these increases were greater in pseudophakic eyes than in phakic eyes. Silicone oil may cause additional visual impairments because of HOAs, beyond those caused by retinal diseases, particularly in pseudophakic eyes.

DRUSEN SUBTYPES AND CHOROIDAL CHARACTERISTICS IN ASIAN EYES WITH TYPICAL NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

PURPOSE: To investigate the prevalence of pachydrusen, soft drusen, and subretinal drusenoid deposits in eyes with different neovascular age-related macular degeneration (nAMD) subtypes, determine the relationship between each drusen type and the choroidal thickness, and analyze the distinct features of each nAMD subtype according to the drusen type. METHODS: Medical records involving 454 eyes from 454 patients with nAMD were retrospectively reviewed. The prevalence of each drusen type and the choroidal thickness and choroidal characteristics were evaluated according to the nAMD subtype. RESULTS: Pachydrusen were prevalent in the typical nAMD (40.4%) and polypoidal choroidal vasculopathy (47.8%) groups and were not detected in the retinal angiomatous proliferation group. No significant drusen were detected in 24.3% of typical nAMD, 43.3% of polypoidal choroidal vasculopathy, and 0% of retinal angiomatous proliferation groups. Regardless of the nAMD subtype, pachydrusen, soft drusen, and subretinal drusenoid deposits were associated with a thick, moderately thick, and thin choroid, respectively. For eyes with typical nAMD, the prevalence of choroidal vascular hyperpermeability and extrafoveal neovascularization was significantly higher in the pachydrusen group than in the other groups. By contrast, the prevalence of Type 2 neovascularization was significantly lower in the pachydrusen group than in the subretinal drusenoid deposit group (P < 0.001 for all). CONCLUSION: The prevalence of various drusen differed according to the nAMD subtypes, and each drusen type was strongly associated with the choroidal thickness. Typical nAMD showed distinct features according to the accompanying drusen type.

Long-Term Incidence and Growth of Chorioretinal Atrophy in Patients with Polypoidal Choroidal Vasculopathy.

PURPOSE: To investigate the long-term incidence and growth rate of chorioretinal atrophy (CRA) in patients with polypoidal choroidal vasculopathy (PCV) and determine the associated risk factors. METHODS: The medical records of 88 patients with unilateral symptomatic PCV who received anti-vascular endothelial growth factor (anti-VEGF) injections with or without photodynamic therapy (PDT) were analyzed retrospectively. Near-infrared fundus imaging and spectral domain optical coherence tomography were used to measure the CRA area and growth rate. Kaplan-Meier survival analysis was performed to estimate the CRA incidence. Logistic and linear regression analyses were used to investigate risk factors (e.g., age, frequency of abnormal OCT findings, PDT history, total injection number, and choroidal thickness) associated with the CRA incidence and growth rate, respectively. RESULTS: The overall CRA incidence was 40.8% at 5 years. The absence of subretinal fluid, the presence of intraretinal fluid, and a thin choroid were significant risk factors for CRA occurrence with a history of PDT. Overall 5-year CRA growth rate was 0.69 mm2/year. Faster CRA growth was significantly related to the presence of subretinal hyperreflective material and thin choroid. PDT history was not significantly related to CRA growth. CONCLUSIONS: Thin choroid may be a significant risk factor for long-term development and growth of CRA in eyes with PCV. Intraretinal fluid seems to promote the development of CRA, while subretinal fluid seems to be associated with CRA prevention. The history of PDT was significantly related to the occurrence of CRA, but not to the growth rate of CRA.