Current Eye Research最新文献

{"title":"Effect Modifiers and Risk Factors of Intraocular Inflammation Following Brolucizumab: A Systematic Review and Meta-analysis.","authors":"Hashem Abu Serhan, Amr K Hassan, Mohamed Rifai, Rowayda A Elsayed, Chakib Djeffal, Yasmine Cherif, Kamel Aboujabal, Nour Awamleh, Merlyn Anjali Pereira, Saket Arya, Abdelrahman M Anter, Ayman G Elnahry","doi":"10.1080/02713683.2024.2402319","DOIUrl":"https://doi.org/10.1080/02713683.2024.2402319","url":null,"abstract":"<p><strong>Purpose: </strong>To identify risk factors and effect modifiers associated with intraocular inflammation (IOI) following brolucizumab injection.</p><p><strong>Methods: </strong>Our protocol was registered on PROSPERO (CRD42022382645). We searched six electronic databases (PubMed, Scopus, Web of Science, CENTRAL, EMBASE, and Google Scholar) to retrieve all studies that reported the occurrence of IOI following brolucizumab. Data are reported as mean difference with their corresponding 95% confidence intervals. All analyses were conducted per eye, and the risk of bias was assessed using the National Health Institute tool.</p><p><strong>Results: </strong>Our analysis included 3527 eyes of 3469 patients of 33 papers. The mean age of the patients was 74 years (SD = 10.9, Range = 62.3-80.9). There were 1793 male patients (51.7%) and 1719 female patients (49.6%). The average follow-up period was 13.9 months (SD = 9.4). The mean number of injections was 4.5 (SD = 2.9) injections per eye; 1315 (37.3%) eyes had neovascular AMD, 189 (5.4%) had diabetic macular edema, and 129 (3.7%) eyes had polypoidal choroidal vasculopathy. Post-intervention, subretinal fluid, intraretinal fluid, and pigment epithelial detachment were significantly improved (46.5-11.3% of patients, 55.7-11.3% of patients, 24.7-7.1% of patients, respectively) (<i>p</i> < 0.001). Regarding visual acuity, there was an improvement with a mean difference of 0.12 (95% CI = 0.18-0.07, <i>z</i> = 4.38, <i>p</i> < 0.0001, 2064 eyes). The most common reported complication is IOI (<i>n</i> = 196, 6%). IOI was observed more in the elderly (76.3 ± 9.2 years), females (66%), and after the second injection.</p><p><strong>Conclusions: </strong>This systematic review provides valuable insights into risk factors and effect modifiers for IOI associated with brolucizumab treatment, aiding clinicians in optimizing patient care. Future studies should prioritize prospective, long-term investigations to further elucidate the safety profile of brolucizumab and refine its use in the management of retinal and choroidal vascular diseases.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-11"},"PeriodicalIF":1.7,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of Prognostic Factors and Treatment Outcomes in Indirect Traumatic Optic Neuropathy: A Retrospective Review of 105 Patients.","authors":"Zhihua Cheng, Fulin Xu, Min Gao, Yongyan Bi, Ye Jiang, Lutao Yuan, Shaoshuai Wu, Cong Luo","doi":"10.1080/02713683.2024.2404599","DOIUrl":"https://doi.org/10.1080/02713683.2024.2404599","url":null,"abstract":"<p><strong>Purpose: </strong>To identify risk factors for vision recovery in indirect traumatic optic neuropathy (TON) and to analyze the outcomes associated with surgical treatment for TON.</p><p><strong>Methods: </strong>Between 2020 and 2023, a total of 105 patients diagnosed with traumatic optic neuropathy (TON) at Shanghai Ninth People's Hospital and Shanghai Minhang Hospital were included in a retrospective study. These individuals underwent optic nerve decompression surgery as part of their treatment. To collect comprehensive data, both preoperative and postoperative information was gathered. For analytical purposes, only those patients who had a minimum of one month follow-up post-treatment were considered. The statistical analysis incorporated the use of median values, odds ratios (OR), and 95% confidence intervals (CI) to interpret the data. Any <i>p</i>-values less than 0.05 were deemed to indicate statistical significance, underlining the rigorous criteria set for this study.</p><p><strong>Results: </strong>A total of 105 patients, with a mean age of 31.8 ± 14.9 years, met the inclusion criteria; 89.5% (94) were men, and 10.5% (11) were women. The median time to seek medical attention after injury was 4 days (range: 1 to 15 days). Prognostic factors associated with visual acuity (VA) improvement included a gradual VA loss pattern (OR: 2.22, 95% CI: 0.91-5.67, <i>p</i> = 0.045), while canal fractures (OR: 0.31, 95% CI: 0.095-0.933, <i>p</i> = 0.019) significantly correlated with poor VA outcomes.</p><p><strong>Conclusions: </strong>This study suggested that surgical interventions benefit TON patients with low vision. Gradual VA loss, rather than sudden loss after injury, may be a potential prognostic factor for favorable VA outcomes, while canal fractures, as detected on computed tomography (CT) imaging-especially complex canal fractures, are associated with poor VA outcomes. In the future, more definitive prospective treatment trials are required to identify optimal treatment strategies for TON.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Temporal Regulation of Myopia and Inflammation-Associated Pathways in the Interphotoreceptor Retinoid-Binding Protein Knockout Mouse Model.","authors":"Shanu Markand, Somin Kim, Micah A Chrenek, Salma Ferdous, Priyanka Priyadarshani, Jeffrey H Boatright, John M Nickerson","doi":"10.1080/02713683.2024.2402317","DOIUrl":"10.1080/02713683.2024.2402317","url":null,"abstract":"<p><strong>Purpose: </strong>Myopia is a complex disorder with etiology involving an interplay between several genetic and environmental factors. Interphotoreceptor retinoid-binding protein (IRBP) is found in the subretinal space and is crucial in the visual cycle. The interphotoreceptor retinoid-binding protein knockout mouse (IRBP KO) was established as a model system to understand myopia and retinal degeneration. The current study investigated genes associated with myopia, retinal homeostasis, and inflammation in IRBP KO.</p><p><strong>Methods: </strong>RNA from retinas of congenic IRBP KO and wild-type C57BL/6J (WT) mice at postnatal day 5 (P5), P40, and P213 were subjected to digital droplet PCR (ddPCR) using a Bio-Rad automated droplet generator and QX200 reader. Target genes were selected based on genome-wide association studies, animal models, myopia studies, and other genes associated with retinal homeostasis and inflammation. HPRT, a housekeeping gene, was used for normalization. An average expression ratio (target/HPRT) and standard deviation (SD) were calculated. ANOVA assessed statistical significance, and a <i>p</i> < 0.05 was considered significant.</p><p><strong>Results: </strong>The ddPCR data analysis indicated that numerous myopia and inflammation-associated genes were differentially regulated in IRBP KO retinas with distinct temporal variation (upregulated at P5, decreased at P40, and no change at P213 relative to WT). <i>C1qa</i>, <i>Gjd2</i>, <i>Sntb1</i>, and <i>Vsx2</i> emerged as top genetic candidate pathways. Compared with WT, immunoblotting analysis of C1qa showed no significant differences at P5 but significantly increased protein levels at P7 in IRBP KOs. Vsx2 remained unaltered at P5 and P7 in KO when compared with WT.</p><p><strong>Conclusions: </strong>Data analysis indicated significant contributions from <i>C1q</i>, <i>Gjd2</i>, <i>Sntb1</i>, and <i>Vsx2</i> genes in IRBP deficiency.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of Microcystoid Macular Degeneration in the Retina of Nonhuman Primates: Time-Course and Associated Pathologies.","authors":"Thomas C M Lavery,Carol A Rasmussen,Alexander W Katz,Charlene B Y Kim,James N Ver Hoeve,Paul E Miller,Peter J Sonnentag,Brian J Christian,Christopher J Murphy,David R Piwnica-Worms,Seth T Gammon,Xudong Qiu,Paul L Kaufman,T Michael Nork","doi":"10.1080/02713683.2024.2397028","DOIUrl":"https://doi.org/10.1080/02713683.2024.2397028","url":null,"abstract":"PURPOSEMicrocystoid macular degeneration (MMD) is a condition where cystoid vacuoles develop within the inner nuclear layer of the retina in humans in a variety of disorders. Here we report the occurrence of MMD in non-human primates (NHPs) with various retinal ganglion cell (RGC) pathologies and evaluate the hypothesis that MMD does not precede RGC loss but follows it.METHODSMorphological studies were performed of the retinas of NHPs, specifically both rhesus (Macaca mulatta) and cynomolgus macaques (Macaca fascicularis), in which MMD was identified after induction of experimental glaucoma (EG), hemiretinal endodiathermy axotomy (HEA), and spontaneous idiopathic bilateral optic atrophy. In vivo imaging analyses included fundus photography, fluorescein angiography (FA), optical coherence tomography (OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), light microscopy, and electron microscopy.RESULTSMMD, like that seen on OCT scans of humans, was found in both rhesus and cynomolgus macaques with EG. Of 13 cynomolgus macaques with chronic EG imaged once with OCT six of 13 animals were noted to have MMD. MMD was also evident in a cynomolgus macaque with bilateral optic atrophy. Following HEA, MMD did not develop until at least 2 weeks following the RNFL loss.CONCLUSIONThese data suggest that MMD may be caused by a retrograde trans-synaptic process related to RGC loss. MMD is not associated with inflammation, nor would it be an independent indicator of drug toxicity per se in pre-clinical regulatory studies. Because of its inconsistent appearance and late development, MMD has limited use as a clinical biomarker.","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":"50 1","pages":"1-8"},"PeriodicalIF":2.0,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal Analysis of Tear Cytokine Ratios in Association with Dry Eye Signs and Symptoms in the Dry Eye Assessment and Management (DREAM) Study.","authors":"Cindy S Zhao, Yineng Chen, Yinxi Yu, Gui-Shuang Ying, Penny A Asbell","doi":"10.1080/02713683.2024.2398113","DOIUrl":"https://doi.org/10.1080/02713683.2024.2398113","url":null,"abstract":"<p><strong>Purpose: </strong>To extend cross-sectional data on cytokine ratios (CRs) in dry eye disease (DED) signs by investigating longitudinal change in pro- to anti-inflammatory CRs and associations with change in DED signs and symptoms.</p><p><strong>Methods: </strong>Secondary analysis of fifty-four subjects [mean age 57.3 (SD 13.2) years, 85.2% female; 68.5% white] with ≥ 4 uL pooled tear volumes at months 0, 6, and 12. Pro-inflammatory (IL-1b, IL-6, IL-8, IL-17A, IFN-g, and TNF-a) to anti-inflammatory (IL-6, IL-10) cytokine ratios (CR) were calculated. DED signs (corneal and conjunctival staining scores, tear break-up time, Schirmer test, Meibomian gland plugging, tear osmolarity, composite sign severity score) and symptoms [Ocular Surface Disease Index (OSDI)] were measured. Changes over time in DED signs, symptoms, and CRs were evaluated using longitudinal models. Correlations between changes in CR and changes in DED signs and symptoms were evaluated using Spearman correlation coefficients (rho).</p><p><strong>Results: </strong>DED signs which improved over time (<i>p</i> < 0.001) included corneal and conjunctival staining score, tear break-up time, tear osmolarity, and composite sign severity score. Using IL-10 as anti-inflammatory, changes in corneal and conjunctival staining and composite severity score significantly correlated with changes in pro- to anti-inflammatory CRs from month 0 to 6 (|rho|: 0.29-0.45, <i>p</i>: 0.003-0.04) but not between month 0 to 12 (|rho|: 0.01 to 0.24, all <i>p</i> > 0.08). DED symptoms decreased across one year (<i>p</i> < = 0.001) for all OSDI measures; these changes did not correlate with changes in CRs (|rho|: 0.00 to 0.29, all <i>p</i> > 0.04).</p><p><strong>Conclusions: </strong>Improvement in some DED signs across one year correlated weakly with decreases in pro- to anti-inflammatory CRs, in alignment with the understanding of DED as inflammatory. CRs may provide greater insight than absolute tear cytokine concentrations as possible DED biomarkers. Additional studies that provide standardized clinical information and tear collection and analysis are needed to validate CRs in DED.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142281642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Revolutionizing Ophthalmic Care: A Review of Ocular Hydrogels from Pathologies to Therapeutic Applications.","authors":"Pankaj Pal,Sharda Sambhakar,Shailendra Paliwal","doi":"10.1080/02713683.2024.2396385","DOIUrl":"https://doi.org/10.1080/02713683.2024.2396385","url":null,"abstract":"PURPOSEThis comprehensive review is designed to elucidate the transformative role and multifaceted applications of ocular hydrogels in contemporary ophthalmic therapeutic strategies, with a particular emphasis on their capability to revolutionize drug delivery mechanisms and optimize patient outcomes.METHODSA systematic and structured methodology is employed, initiating with a succinct exploration of prevalent ocular pathologies and delineating the corresponding therapeutic agents. This serves as a precursor for an extensive examination of the diverse methodologies and fabrication techniques integral to the design, development, and application of hydrogels specifically tailored for ophthalmic pharmaceutical delivery. The review further scrutinizes the pivotal manufacturing processes that significantly influence hydrogel efficacy and delves into an analysis of the current spectrum of hydrogel-centric ocular formulations.RESULTSThe review yields illuminating insights into the escalating prominence of ocular hydrogels within the medical community, substantiated by a plethora of ongoing clinical investigations. It reveals the dynamic and perpetually evolving nature of hydrogel research and underscores the extensive applicability and intricate progression of transposing biologics-loaded hydrogels from theoretical frameworks to practical clinical applications.CONCLUSIONSThis review accentuates the immense potential and promising future of ocular hydrogels in the realm of ophthalmic care. It not only serves as a comprehensive guide but also as a catalyst for recognizing the transformative potential of hydrogels in augmenting drug delivery mechanisms and enhancing patient outcomes. Furthermore, it draws attention to the inherent challenges and considerations that necessitate careful navigation by researchers and clinicians in this progressive field.","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":"16 1","pages":"1-17"},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of Corneal Dermoid with Fibrin Glue Boned Multi-Layer Lenticules from Small Incision Lenticules Extraction Surgery: A Preliminary Study of Five Patients.","authors":"Zhen Li, Zhongxia Cheng, Ziyu Jia, Yuyan Tang","doi":"10.1080/02713683.2024.2398121","DOIUrl":"https://doi.org/10.1080/02713683.2024.2398121","url":null,"abstract":"<p><strong>Purpose: </strong>Dermoid excision combined with lamellar keratoplasty was one of the most common surgical techniques for corneal dermoid. Due to the huge shortage of corneal donors, small incision lenticule extraction (SMILE) derived lenticules might be the novel and feasible corneal grafts instead of traditional corneal donors. Therefore, we tried to use FG boned multi-layer lenticules as grafts in the treatment of corneal dermoid.</p><p><strong>Methods: </strong>Five patients (the oldest patient was 54 years old and the youngest case was 5 years old) were diagnosed with corneal dermoid and complaining of blurred vision or unsatisfied cosmetic appearance. All patients underwent corneal dermoid excision combined with FG boned multi-layer corneal lenticules transplantation. Slit-lamp microscopy and anterior-segmental optical coherence tomography(AS-OCT)were used to observe ocular appearance, corneal grafts survival, epithelialization, transparency, interlamellar fluid accumulation and the degradation of FG. The preoperative and postoperative change of best-corrected visual acuity (BCVA) and astigmatism were respectively recorded.</p><p><strong>Results: </strong>All patients were satisfied with the postoperative cosmetic results. BCVA had been increased and astigmatism had been decreased in all cases. We observed that the FG boned multi-layer corneal lenticules were covered with smooth corneal epithelium in one week after transplantation and successfully adhered to the corneal beds, without any dislocation or interlayer separation. FG was gradually degraded and absorbed within 1 month after surgery. The lenticule grafts grew well without rejection and kept transparency during the follow-up period.</p><p><strong>Conclusions: </strong>FG boned multi-layer lenticules would be the novel and feasible substitute for lamellar keratoplasty in the treatment of corneal dermoid. FG could not be only used as binder adhering multi-layer lenticules, closing the interlayer space of multi-layer lenticules, preventing the formation of interlayer fluid, but also increasing the thickness and toughness of lenticules, and therefore which is more facilitate to intraoperative suture.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"1-7"},"PeriodicalIF":1.7,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142124992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rabbit Dry Eye Model Induced by Subcutaneous Scopolamine.","authors":"Sujuan Duan, Bishan Tian, Guofu Huang, Shitong Huang, Shiyou Zhou","doi":"10.1080/02713683.2024.2349642","DOIUrl":"10.1080/02713683.2024.2349642","url":null,"abstract":"<p><strong>Purpose: </strong>To establish and characterize a dry eye model in New Zealand rabbits by subcutaneous injections of scopolamine hydrobromide (SCOP).</p><p><strong>Methods: </strong>Twenty New Zealand male rabbits were injected subcutaneously SCOP for 14 consecutive days; subcutaneous saline was used as a negative control. The correlated clinical parameters of ocular surface dryness were detected <i>in vivo</i> using tear secretion and corneal fluorescein staining. The expression of IL-1β and TNF-α on the ocular surface and in lacrimal glands were analyzed by real-time PCR and western blot on the 14th day. The expression of Mucin-5 subtype AC (MUC5AC) was detected by Immunofluorescence staining in conjunctival tissue.</p><p><strong>Results: </strong>The SCOP-treated rabbits exhibited significantly decreased aqueous tear secretion and increased corneal fluorescein staining scores over time. Both the mRNA expression levels and the protein expression levels of IL-1β and TNF-α were significantly increased after SCOP treatment compared with those after saline treatment. The loss of conjunctival MUC5AC was found in the SCOP-injected rabbits. Some infiltrated inflammatory cells and atrophic acinar cells were observed in the lacrimal gland after SCOP treatment. The disordered structures of the ocular surface and lacrimal glands were also observed.</p><p><strong>Conclusions: </strong>This study showed that repeated subcutaneous SCOP injections successfully elicited some of the typical dry eye symptoms commonly seen in humans.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"905-913"},"PeriodicalIF":1.7,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole Exome Sequencing as an Effective Molecular Diagnosis Tool for Craniofacial Fibrous Dysplasia with Ocular Complications.","authors":"Bingyan Shen, Yenan Fang, Qin Dai, Qiqi Xie, Wencan Wu, Min Wang","doi":"10.1080/02713683.2024.2349634","DOIUrl":"10.1080/02713683.2024.2349634","url":null,"abstract":"<p><strong>Purpose: </strong>To summarize the clinical manifestations of craniofacial fibrous dysplasia (CFD) patients with ocular complications, and find effective methods to diagnose early.</p><p><strong>Methods: </strong>Nine CFD patients with ocular complications, and their parents were recruited in this study. All patients underwent ocular and systemic examinations. Bone lesions from all patients and peripheral blood from patients and their parents were collected for whole exome sequencing (WES). According to the screening for low-frequency deleterious variants, and bioinformatics variants prediction software, possible disease-causing variants were found in multiple CFD patients. The variants were validated by Sanger sequencing. Trio analysis was performed to verify the genetic patterns of CFD.</p><p><strong>Results: </strong>All patients were diagnosed with CFD, according to the clinical manifestations, classic radiographic appearance, and pathological biopsy. The main symptoms of the 9 CFD patients, included visual decline (9/9), craniofacial deformity (3/9) and strabismus (2/9), with few extraocular manifestations. The family backgrounds of all the CFD patients indicated that only the patient was affected, and their immediate family members were normal. <i>GNAS</i> variants were identified in all bone lesions from CFD patients, including two variant types: c.601C > T:p.R201C(6/9) and c.602G > A:p.R201H (3/9) in exon 8. The detection rate reached 100% by WES, but only 77.8% by Sanger sequencing. Interestingly, we found <i>GNAS</i> variants could not be detected in peripheral blood samples from CFD patients or their parents, and other potentially disease-causing gene variants related to CFD were not found.</p><p><strong>Conclusions: </strong>For CFD patients with bone lesions involving the optic canal or sphenoid sinus regions, ocular symptoms should also be considered. Furthermore, we confirmed that CFD is not inherited, somatic variants in the <i>GNAS</i> gene are the main pathogenic gene causing CFD. Compared to the traditional methods in molecular genetic diagnosis of CFD, WES is more feasible and effective but limited in the type of samples.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"996-1003"},"PeriodicalIF":1.7,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140851912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Solar Eclipses on Vision: Insights from Optical Coherence Tomography and Optical Coherence Tomography Angiography Analysis.","authors":"Figen Bezci Aygün, Hilal Toprak Tellioğlu, Sibel Kadayıfcılar","doi":"10.1080/02713683.2024.2352014","DOIUrl":"10.1080/02713683.2024.2352014","url":null,"abstract":"<p><strong>Purpose: </strong>Solar retinopathy, resulting from solar eclipse exposure, poses risks to visual health. This study explores acute and chronic phase findings using clinical examinations and optical coherence tomography (OCT) and optical coherence tomography angiography (OCT-A) with a focus on longitudinal assessment.</p><p><strong>Methods: </strong>Seven eyes with a history of unprotected solar eclipse exposure were included. Clinical examination, fundus photography, OCT, and OCT-A imaging were performed at initial assessment, as well as at one-month and six-month follow-up intervals. Data analysis included descriptive statistics.</p><p><strong>Results: </strong>The cases, exposed without protection, underwent assessments, revealing variable visual acuity, outer retinal layer, and Henle fiber layer changes during follow-up. Regression of hyperreflectivity within the outer retinal and Henle fiber layers was observed over time in all eyes, although persistent microdefects within the outer retinal layer were noted in specific cases. OCT-A imaging revealed a larger foveal avascular zone, which persisted over a six-month period in select cases. Additionally, affected eyes exhibited a decrease in superficial vascular density, with subsequent improvement noted during the six-month period.</p><p><strong>Conclusion: </strong>Solar retinopathy can result in visual impairment, accompanied by alterations observed in the Henle fiber layer using OCT. Additionally, OCT-A findings indicate possible vascular involvement. This study underscores the significance of adopting protective measures during solar eclipses and emphasizes the value of employing longitudinal multimodal imaging techniques to comprehend the pathophysiology of the condition.</p>","PeriodicalId":10782,"journal":{"name":"Current Eye Research","volume":" ","pages":"988-995"},"PeriodicalIF":1.7,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}