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PURPOSE: This study aims to explore genetic variants that potentially lead to outer retinal tubulation (ORT), estimate the prevalence of ORT in these candidate genes, and investigate the clinical etiology of ORT in patients with inherited retinal diseases (IRDs), with respect to each gene. DESIGN: Retrospective cohort study. METHODS: A retrospective cross-sectional review was conducted on 565 patients with molecular diagnoses of IRD, confirming the presence of ORT as noted in each patient's respective spectral-domain optical coherence tomography (SD-OCT) imaging. Using SD-OCT imaging, the presence of ORT was analyzed in relation to specific genetic variants and phenotypic characteristics. Outcomes included the observed ORT frequencies across two gene-specific cohorts: non- retinal pigment epithelium (RPE)-specific genes, and RPE-specific genes; and to investigate the analogous characteristics caused by variants in these genes. RESULTS: Among the 565 patients included in this study, 104 exhibited ORT on SD-OCT. We observed ORT frequencies among the following genes from our patient cohort: 100% (23/23) forCHM, 100%(2/2) forPNPLA6, 100% (4/4) forRCBTB1, 100% formtDNA[100% (4/4) forMT-TL1and 100% (1/1) formtDNAdeletion], 100% (1/1) forOAT, 95.2% (20/21) forCYP4V2, 72.7% (8/11) forCHMfemale carriers, 66.7% (2/3) forC1QTNF5, 57.1% (8/14) forPROM1, 53.8% (7/13) forPRPH2, 42.9% (3/7) forCERKL, 28.6% (2/7) forCDHR1, 20% (1/5) forRPE65, 4% (18/445) forABCA4.In contrast, ORT was not observed in any patients with photoreceptor-specific gene variants, such asRHO(n=13),USH2A(n=118),EYS(n=70),PDE6B(n=10),PDE6A(n=4),and others. CONCLUSION: These results illustrate a compelling association between the presence of ORT and IRDs caused by variants in RPE-specific genes, as well as non-RPE-specific genes. In contrast, IRDs caused by photoreceptor-specific genes are typically not associated with ORT occurrence. Further analysis revealed that ORT tends to manifest in IRDs with milder intraretinal pigment migration (IPM), a finding that is typically associated with RPE-specific genes. These findings regarding ORT, genetic factors, atrophic patterns in the fundus, and IPM provide valuable insight into the complex etiology of IRDs. Future prospective studies are needed to further explore the association and underlying mechanisms of ORT in these contexts.
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BACKGROUND: The present study compares the anatomical and functional outcomes (best-corrected visual acuity (BCVA) and central macular thickness (CMT)) among membrane peeling with or without SF6 tamponade in patients with epiretinal membrane. METHODS: We retrospectively reviewed patients diagnosed with macular pucker who underwent pars plana vitrectomy and membrane peeling in a tertiary center in Taiwan from January 2021 to December 2022. Subjects were categorized into with or without SF6 tamponade groups (SF6 group and BSS group). Postoperative intraocular pressure and complications were documented. Logistic regression analyses were performed to identify the prognostic factors during follow-up. RESULTS: A total of 89 eyes were enrolled, including 34 eyes in the BSS group and 55 eyes in the SF6 group. The mean age was 66 years old, and a female predilection was demonstrated. Both groups possessed statistically significant improvement in BCVA and CMT after the operation. There was no significant difference in CMT between the groups at any time of observation, yet we observed significant differences in baseline BCVA and BCVA at last follow-up among the two groups. Both groups yielded an approximate enhancement of LogMAR 0.3 in BCVA postoperatively. There was no significant difference noted in postoperative IOP between the two groups. CONCLUSION: Membrane peeling with or without SF6 tamponade yields comparable outcomes anatomically and functionally. This may indicate that SF6 tamponade for idiopathic macular pucker surgery may not provide extra benefit, and therefore warrants reconsideration as standard procedure.
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Purpose: To investigate the microbiology and antimicrobial susceptibility of dacryocystitis in adults and identify the changing trends over time in Taiwan. Methods: This is a single-centered, retrospective study. We retrospectively reviewed adult patients with dacryocystitis from January 2012 to December 2021 in a tertiary medical center in Taiwan. The pathogens and in vitro antimicrobial susceptibility of the pus cultures from the lacrimal sac were collected. Results: Thirty-five cultures in acute and 211 cultures in chronic dacryocystitis were collected. Of the 220 isolates, a similar proportion of gram-positive (44%) and gram-negative (43%) aerobes were demonstrated in chronic dacryocystitis and more gram-negative aerobes (50%) than gram-positive aereobes (41%) in acute dacryocystitis. The most common pathogens were methicillin-resistant Staphylococcus aureus (MRSA; 28.1%) and Pseudomonas aeruginosa (28.1%) in acute dacryocystitis, while coagulase-negative Staphylococci was the most common micro-organism in chronic dacryocystitis. The effective antibiotics for gram-positive aerobes were vancomycin (100%), moxifloxacin (88%) and trimethoprim/sulfamethoxazole (78%). Meropenem (95%), amikacin (93%), and levofloxacin (91%) were sensitive to more than 90% of gram-negative aerobes in current study. High resistant species were also isolated in our cohort. Conclusion: More gram-negative pathogens and more resistant species are rising in adult dacryocystitis. Understanding the bacteriology and antimicrobial susceptibility of the region is crucial for the empirical antibiotic selection in clinical practice.
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Purpose: This study investigated the clinical characteristics of patients with PROM1-related inherited retinal diseases (IRDs). Methods: Patients diagnosed with IRDs who had mutations in PROM1 were identified at Linkou Chang Gung Memorial Hospital and Kaohsiung Medical University Hospital in Taiwan. Information on clinical characteristics and best-corrected visual acuity was recorded. Color fundus (CF) images, fundus autofluorescence photography (FAF), spectral-domain optical coherence tomography (SD-OCT), and electroretinograms (ERGs) were analyzed to examine patient phenotypes. PROM1 variants were detected using whole exome sequencing and verified by Sanger sequencing. Results: Fourteen patients from nine families with PROM1-related IRDs were analyzed. Most patients exhibited chorioretinal atrophy in the macular area, with or without extramacular involvement on CF. Similarly, hypo-autofluorescence confined to the macular area, with or without extramacular involvement, was present for most patients on FAF. Furthermore, SD-OCT revealed outer retinal tubulations and focal or diffuse retinal thinning. ERGs showed variable findings, including maculopathy with normal ERG, subnormal cone response, and extinguished rod and cone responses. We detected five variants of the PROM1 gene, including c.139del, c.794del, c.1238T>A, c.2110C>T, and c.1117C>T. Conclusions: In this study, we evaluated 14 Taiwanese patients with five PROM1 variants. Additionally, incomplete penetrance of heterozygous PROM1 variants was observed. Furthermore, patients with autosomal dominant PROM1 variants had lesions in the macular area and the peripheral region of the retina. SD-OCT serves as a useful tool for early detection of PROM1-related IRDs, as it captures certain signs of such diseases.
Subject(s)
Macular Degeneration , Retinal Degeneration , Humans , Retina/pathology , Retinal Degeneration/genetics , Macular Degeneration/diagnosis , Retinal Cone Photoreceptor Cells , Mutation , Electroretinography , Tomography, Optical Coherence/methods , AC133 Antigen/geneticsABSTRACT
Given the improvement in the instrument and techniques, novel surgical interventions emerged to avoid the osteotomy from the gold standard dacryocystorhinostomy (DCR) for treating primary acquired nasolacrimal duct obstruction (PANDO). This study's aim is to compare the surgical outcomes of antegrade balloon dacryocystoplasty (DCP) with pushed monocanalicular intubation (MCI) to balloon DCP alone in patients with complete PANDO. Adult patients with complete PANDO receiving balloon DCP followed by pushed MCI or balloon DCP alone from December 2014 to May 2019 were retrospectively reviewed. A total of 37 eyes of 29 patients were treated with balloon DCP with pushed MCI for 1 month, whereas 35 eyes of 28 patients were treated with balloon DCP alone. The success rates at 1 month, 3 months, and 6 months after operation were 89.2%, 73.0%, and 70.2%, respectively, in balloon DCP with MCI group, and 62.9%, 62.9%, and 60.0%, respectively, in the balloon DCP alone group. The balloon DCP with pushed MCI group had a better success rate but only reached statistical significance at 1 month postoperatively (p < 0.01). Subgroup analysis was performed based on age. The success rate in those under 65 in the combined balloon DCP with MCI group was significantly higher than in balloon DCP alone group (72.7% vs. 9.1%, p = 0.004), whereas there was no significant difference between those aged at least 65 in the combined group and the balloon DCP alone group (69.2% vs. 83.3%, p = 0.2). Conclusively, there was no significant difference in the success rate between antegrade balloon DCP with and without pushed MCI in general. Nevertheless, the former procedure was associated with significantly higher surgical success rate than the latter in younger patients.
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Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization of CVI disease cohorts has been fragmented and lacks integration. By revisiting the genome-wide and phenome-wide association studies (GWAS and PheWAS), we clustered a handful of renowned CVIs into five ontology groups, namely ciliopathies (Joubert syndrome, Bardet-Biedl syndrome, Alstrom syndrome), demyelination diseases (multiple sclerosis, Alexander disease, Pelizaeus-Merzbacher disease), transcriptional deregulation diseases (Mowat-Wilson disease, Pitt-Hopkins disease, Rett syndrome, Cockayne syndrome, X-linked alpha-thalassaemia mental retardation), compromised peroxisome disorders (Zellweger spectrum disorder, Refsum disease), and channelopathies (neuromyelitis optica spectrum disorder), and reviewed several mutation hotspots currently found to be associated with the CVIs. Moreover, we discussed the common manifestations in the brain and the eye, and collated animal study findings to discuss plausible gene editing strategies for future CVI correction.
Subject(s)
Bardet-Biedl Syndrome , Neuromyelitis Optica , Animals , Cerebellum , Comorbidity , Pathology, MolecularABSTRACT
Dacryocystorhinostomy (DCR) has been a primary treatment for adults with nasolacrimal duct obstruction, while the optimal approach and technique remain controversial. With the advancement of endoscopic DCR and the silicone stents, an update of the surgical outcomes and preferable approaches is required. This study aims at comparing the surgical outcomes of endoscopic DCR using pushed bicanalicular intubation (BCI) to pulled monocanalicular intubation (MCI) in adults with primary acquired nasolacrimal duct obstruction (PANDO). Forty five eyes of 45 patients were enrolled, including 22 eyes of 22 patients treated with endoscopic DCR with pulled MCI and 23 eyes of 23 patients with pushed BCI from January 2014 to June 2021. The success rates at stent removal, 1 month and 3 months after removal were 95, 91, and 82%, respectively, in the MCI group, and 100, 87, and 87% in the BCI group. The BCI group had better success rates but failed to reach a significant difference (p = 0.49, p = 0.67, p = 0.24, respectively). After analyzing with binary logistic regression, the implant material was demonstrated as the predictive of surgical success (p = 0.045). There was no significant difference in success rates between patients with dacryocystitis and those without dacryocystitis. We conclude that endoscopic DCR with pushed BCI is easily manipulated and has a promising surgical outcome over pulled MCI. Stent indwelling duration as well as history of dacryocystitis have less influence on the success rates.
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Purpose: This study aimed to evaluate the therapeutic efficacy and long-term outcomes of treatment with topical 2% ganciclovir solution in immunocompetent patients with aqueous humor polymerase chain reaction (PCR)-proven cytomegalovirus (CMV) anterior uveitis and corneal endotheliitis. Methods: We retrospectively reviewed the findings for immunocompetent patients diagnosed with CMV uveitis or endotheliitis based on clinical manifestations and polymerase chain reaction (PCR) examination results and treated with topical 2% ganciclovir solution at National Cheng Kung University Hospital. Clinical outcome measurements included evaluations of the response rate, relapses, resolution of anterior chamber inflammation, visual acuity, and intraocular pressure. Results: The study included 38 eyes of 32 patients. Long-term administration of topical 2% ganciclovir significantly decreased keratic precipitates (p = 0.001), anterior chamber cells (p = 0.001), and reduced intraocular pressure (p < 0.001). Only one eye was unresponsive to topical ganciclovir treatment, and the recurrence decreased to 0.13 relapses per year. The presence of keratic precipitates and higher intraocular pressure at the initial presentation were significantly associated with recurrence (p = 0.036 and p = 0.001, respectively). Conclusions: Long-term use of topical 2% ganciclovir solution is effective, safe, and applicable when commercialized ganciclovir gel is not available.
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PURPOSE: To report the surgical outcomes of antegrade balloon dacryocystoplasty combined with pushed-type monocanalicular intubation as a primary surgical treatment in patients with congenital nasolacrimal duct obstruction. METHODS: A retrospective cohort study was conducted at National Cheng Kung University Hospital. The medical records of all patients with congenital nasolacrimal duct obstruction who underwent antegrade balloon dacryocystoplasty followed by pushed-type monocanalicular intubation as the primary surgical treatment from January 2018 to July 2020 were included. The monocanalicular tube was removed 1 to 2 weeks after intubation. Surgical success was defined as resolved epiphora 1 month after the tube was removed. RESULTS: A total of 62 eyes of 48 patients were involved in this study. The mean age of the total population was 24.1 months (range: 12 to 66 months). The mean duration of the tube indwelling in the nasolacrimal duct was 9.5 days (range: 4 to 15 days). A total of 60 of the 62 eyes (96.77%) reported surgical success. Early tube loss occurred in 2 eyes (3.23%); however, epiphora was not reported afterward. No complications other than tube loss were recorded. There were no recurrences in patients who had undergone successful surgery observed up to July 2020. CONCLUSIONS: Antegrade balloon dacryocystoplasty with short-term pushed-type monocanalicular intubation as a primary surgical treatment for congenital nasolacrimal duct obstruction may have high potential with a high success rate and a low complication rate. [J Pediatr Ophthalmol Strabismus. 2021;58(6):365-369.].