Purpose: We report two cases of retinal dystrophy with high myopia associated with a novel retinitis pigmentosa 2 (RP2) exon1 deletion and a simultaneous transforming growth factor β-induced (TGFBI) point mutation.Case summary: The patients were two male siblings previously diagnosed with retinitis pigmentosa. They had a maternal family history of granular corneal dystrophy, and both presented with high myopia of ≥ -7.00 diopters (D). On ophthalmologic imaging, they displayed identical symmetric diffuse retinal dystrophy with hyperpigmented bony spicules in both eyes. Optical coherence tomography revealed diffuse thinning of the neurosensory retina and disruption of the ellipsoid zone. Full-field electroretinography showed nearly flattened cone and rod responses. Although targeted next-generation sequencing did not reveal any mutations in either case, whole-exome sequencing confirmed the existence of a single heterozygous TGFBI point mutation (c.371G>A(p.(Arg124His))) in both patients. Subsequent whole genome sequencing (WGS) confirmed novel RP2 exon1 deletion (c.-37_c.102+581del (720bp)). Conclusions In this case of familial hereditary granular corneal dystrophy, there were difficulties diagnosing and interpreting the genetic test results because of the very rare RP2 deletion. Prior to WGS, it was thought that retinal dystrophy could be attributed to an atypical clinical feature associated with the TGFBI mutation and high myopia. Retinal specialists who diagnose and manage these patients are advised to compile plans that consider appropriate genetic testing and interpretation of the outcomes.

Metamorphopsia is a common symptom of macular disease and can persist after macular surgery. Disarrangement of the photoreceptors is a plausible theory for metamorphopsia. Removal of the internal limiting membrane (ILM) causes the contraction of exposed retinal nerve fibers (RNFs), and consequently the macula is deformed. After removal of the ILM to a large extent, the fovea is displaced to the optic disc following the summed vector force of RNF contraction. The photoreceptors may be displaced concurrently with deformation of the inner layers of the macula, resulting in metamorphopsia. This article reviewed published papers related to the mechanism of metamorphosia and interpreted the results based on the above concepts.

Purpose: We report two cases of exudative retinal detachment with a characteristic distribution of subretinal fluid (SRF) on optical coherence tomography (OCT) after vitrectomy for proliferative diabetic retinopathy (PDR).Case summary: A 54-year-old woman diagnosed with PDR and vitreous hemorrhage (VH) was treated with pars plana vitrectomy combined with endolaser photocoagulation and cataract surgery. Based on a diagnosis of PDR and VH, a 66-year-old man underwent vitrectomy and endolaser photocoagulation. In both cases, exudative retinal detachment was observed on OCT a few days after surgery. On OCT vertical section, the SRF was mainly distributed in the inferior and superior regions of the fovea, while sparing the foveal center.The patients were followed via observation, and SRF resolved spontaneously. Conclusions Our two cases suggest that excessive endolaser photocoagulation during vitrectomy may cause exudative retinal detachment.

Purpose: To evaluate 24-month outcomes of anti-vascular endothelial growth factor (VEGF) treatment in polypoidal choroidal vasculopathy (PCV). Methods: Retrospective review of medical records was performed for 34 patients (34 eyes) who were diagnosed with PCV. The best-corrected visual acuity (BCVA) was measured before the injection and at 6, 12, and 24 months after the first injection. The value measured before treatment was compared with those measured after treatment. Results: The patients received mean 6.5 ± 2.1 intravitreal anti-VEGF injections during the 24-month follow-up period. The logarithm of minimal angle of resolution (logMAR) BCVA before the injection and at 6, 12, and 24 months after the first injections were 0.57 ± 0.32, 0.43 ± 0.29, 0.46 ± 0.33, and 0.62 ± 0.39, respectively. The BCVA was significantly improved at 6 and 12 months (p = 0.001 and p = 0.037, respectively). However, there was no significant difference between BCVA before the injection and 24 months (p = 1.000) after the first injection. At the 24-month follow-up, stable (< 2 logMAR lines of change) or improved (≥ 2 logMAR lines of improvement) BCVA was noted in 13 (38.2%) and 10 eyes (29.4%), respectively. Conclusions Anti-VEGF therapy was beneficial in maintaining long-term visual acuity in PCV. However, significant improvement in visual acuity was not noted.

Purpose: The purpose of this study is to investigate peripapillary retinal nerve fiber layer (RNFL) and macular retinal layer thickness according to serum homocysteine concentration. Methods: Serum homocysteine levels of 120 retinal vein occlusion patients were measured. Peripapillary RNFL thickness and macular retinal layer thickness of unaffected eyes were measured by spectral domain optical coherence tomography and analyzed. Results: Average peripapillary RNFL thickness thinning (86.18 ± 19.78 µm vs. 99.61 ± 17.21 µm) (p < 0.001) and all quadrant (superior, nasal inferior, temporal) of peripapillary RNFL thickness thinning were observed in hyperhomocysteinemia patients. Average central macular thickness (CMT) (266.01 ± 29.59 µm vs. 278.71 ± 25.17 µm) was thinner in hyperhomocysteinemia patients (p = 0.029). Thinning of the macular nerve fiber layer (11.71 ± 3.46 µm vs. 14.35 ± 9.03 µm) and inner nuclear layer (25.45 ± 9.84 µm vs. 30.94 ± 13.88 µm) were also observed (p = 0.022, p = 0.041, respectively). There was a negative correlation between serum homocysteine and peripapillary RNFL thickness (r = -0.223, p = 0.015), and CMT (r = -0.230, p = 0.012), especially of the inner retinal layer. Conclusions This study found associations of serum homocysteine with peripapillary RNFL and macular retinal layer thickness.

Purpose: To evaluate the clinical outcomes of 25-gauge microincision vitrectomy for vitreoretinal diseases in patients who have undergone glaucoma drainage implant surgery for the treatment of neovascular glaucoma. Methods: We retrospectively examined the preoperative and postoperative best corrected visual acuity (BCVA), intraocular pressure (IOP), and complications of patients with previous Ahmed valve implantation surgery who underwent vitrectomy and were available for follow-up for at least 6 months. Results: A total of 20 eyes had Ahmed valve implantation for neovascular glaucoma, of which 16 eyes (80%) had proliferative diabetic retinopathy, and 4 eyes (20%) had central retinal vein occlusion. All eyes underwent 25-gauge microincision vitrectomy for the treatment of vitreous hemorrhage unresponsive to conservative treatment. BCVA (logarithm of minimal angle of resolution, logMAR) improved from 1.08 ± 0.29 preoperatively to 0.61 ± 0.32 (p = 0.004) postoperatively. Mean IOP increased from 16.2 ± 3.4 mmHg preoperatively to 17.4 ± 2.8 mmHg at 6 months postoperatively (p = 0.569), with no significant change. There were no cases of exposed body or tube of Ahmed valve after surgery, and vitreous hemorrhage (7 eyes, 31.8%) was the most common complication. Conclusions With a carefully chosen incision site, 25-gauge microincision vitrectomy is an effective treatment method to treat vision-threatening complications such as vitreous hemorrhage in eyes previously implanted with a glaucoma drainage device, with minimal impact on elevated intraocular pressure.

Purpose: To compare visual outcomes over 6 months between intravitreal anti-vascular endothelial growth factor (VEGF) therapy with or without pneumatic displacement in patients who were diagnosed with submacular hemorrhage secondary to polypoidal choroidal vasculopathy (PCV). Methods: This retrospective observational study included 12 eyes that underwent pneumatic displacement followed by anti-VEGF therapy (combined treatment group) and 17 eyes that underwent anti-VEGF monotherapy (anti-VEGF monotherapy group) for submacular hemorrhage secondary to PCV and were followed for at least 6 months. The best-corrected visual acuity (BCVA) was measured at diagnosis and at 1, 3, and 6 months. The BCVA at 6 months and degree of BCVA improvement during the 6 months of follow-up were compared between the 2 groups. Results: In the combined treatment group, the mean (± standard deviation) logarithm of minimal angle of resolution BCVA values at the defined periods were 1.40 ± 0.54, 1.08 ± 0.63, 0.83 ± 0.57, and 0.79 ± 0.64, respectively. In the anti-VEGF monotherapy group, the mean BCVAs were 1.48 ± 0.47, 1.31 ± 0.48, 1.13 ± 0.52, and 1.04 ± 0.67, respectively. BCVA was significantly improved in both the combined treatment group (p = 0.012) and the monotherapy group (p = 0.026). Neither the BCVA at 6 months nor the degree of improvement in the BCVA was different between the 2 treatment groups (p = 0.269 and p = 0.300, respectively). Conclusions No notable difference in efficacy was observed between intravitreal anti-VEGF therapy with or without pneumatic displacement in treating submacular hemorrhage secondary to PCV.

Purpose: To report a case of delayed closure of internal limiting membrane (ILM) flap-covered macular hole after intravitreal injection of triamcinolone acetonide.Case summary: A 73-year-old female presented with decreased visual acuity in the right eye, which had best-corrected visual acuity (BCVA) of 0.2. The patient was diagnosed with cataract and macular telangiectasia type 2. Optical coherence tomography (OCT) revealed the ‘ILM drape sign,’ in which only the ILM remained with full-thickness neurosensory retinal defect in the right eye. The patient underwent combined 25 gauge (G) pars plana vitrectomy (PPV) and phacoemulsification, ILM peeling with a superior inverted ILM flap technique, and fluid-air exchange (FAX). After surgery, OCT showed that the ILM flap covered the macular hole (MH), which was persistent, with increased macular edema surrounding the hole. As macular edema was worsened at 3 weeks, pseudophakic cystoid macular edema (CME) was suspected. Triamcinolone acetonide was injected twice at 5 and 11 weeks. Oral ibuprofen 400 mg tid was prescribed for 4 weeks. CME and neurosensory defect decreased gradually, and the macular hole closed at 4 months. There was no recurrence as of 18 months after surgery. Conclusions After macular hole surgery using the ILM flap technique, hole closure may be delayed when accompanied by postoperative CME. In such cases, CME management would promote the closure of the macular hole.

Purpose: To evaluate the clinical outcomes of a non-diffractive extended-depth-of-focus (EDoF) intraocular lens in eyes by epiretinal membrane (ERM) stage. Methods: Clinical records of 289 eyes with AcrySof® IQ Vivity TM (Alcon Laboratories) implantation were reviewed. Eyes were grouped according to ERM stage as no ERM (n = 228), stage 1 (n = 29), stage 2 (n = 20), and stage 3 (n = 12) ERM. Corrected and uncorrected distant visual acuity (CDVA and UDVA, respectively), uncorrected intermediate and near visual acuity (UIVA and UNVA), contrast sensitivity detected by the area under the log contrast sensitivity function (AULCSF), Strehl ratio, area ratio, and intraocular aberration were compared. Results: There was no difference in UDVA, UIVA, UNVA, or CDVA between groups (p = 0.639, p = 0.871, p = 0.963, and p = 0.051, respectively). There was no significant difference in Strehl ratio (p = 0.208), area ratio at 4 mm (p = 0.434), area ratio at 5 mm (p = 0.511), or ocular aberrations (p = 0.311 for total aberration). The AULCSF showed significant differences during both day (1.48 ± 0.21, 1.41 ± 0.18, 1.33 ± 0.17, and 1.31 ± 0.19 for no ERM, stage 1, stage 2, and stage 3 ERM, respectively; p = 0.036) and night (1.21 ± 0.21, 1.22 ± 0.12, 1.02 ± 0.20, and 1.08 ± 0.10 for no ERM, stage 1, stage 2, and stage 3 ERM; p = 0.027). Conclusions Eyes with stage 3 ERM without outer retinal involvement may benefit from EDoF technology when there is no metamorphopsia and when accompanied by timely membrane removal.

Purpose: Early detection of hydroxychloroquine (HCQ)-related retinopathy is important. We aimed to determine whether changes in choroidal thickness (ChT) and outer nuclear layer (ONL) thickness might signal impending HCQ toxicity before development of retinopathy. Methods: We included patients with systemic lupus erythematosus or rheumatoid arthritis who were treated with HCQ and followed for ≥ 12 months. Patients were categorized into groups with no HCQ-related retinopathy (HCQ continued (group A, n = 49) or HCQ discontinued (group B, n = 9) and with HCQ-related retinopathy (group C, n = 9) groups. Using optical coherence tomography (OCT) images, ChT measurements were obtained at the subfovea and 1.5 mm nasal and temporal to the fovea. ONL thickness was obtained from the fovea using inner and outer rings of the Early Treatment of Diabetic Retinopathy Study (ETDRS) grid. Results: At baseline, mean ChT was thinner in all of the HCQ intake groups than in normal eyes (n = 35). Among patients with no retinopathy, ChT at all measured locations decreased in group A (average ChT, p < 0.001), whereas the average ChT significantly improved in group B after HCQ discontinuation (p = 0.038). In all HCQ groups, ONL thicknesses in the outer ETDRS ring area continued to show a significant decrease during follow-up, regardless of HCQ continuity (p ≤ 0.050). The association between an average of the outer ETDRS ONL thickness and ChT changes in group A was also statistically significant after adjusting for daily dose per kg and duration of HCQ use (p = 0.042). Conclusions Among patients without HCQ-related retinopathy, ChT continued to decrease during HCQ treatment but stopped thinning and was partially recovered following HCQ discontinuation. ONL thinning was observed progressively regardless of HCQ continuity.ChT and ONL measurements might be used for early detection of HCQ retinal toxicity.