Investigative ophthalmology & visual science最新文献

{"title":"Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.","authors":"Xiaonan Zhuang, Fengjuan Gao, Yi Xuan, Zhongcui Sun, Xiaofeng Ye, Xin Huang, Rui Jiang, Jihong Wu, Min Wang, Qing Chang, Gezhi Xu, Wei Liu","doi":"10.1167/iovs.66.4.34","DOIUrl":"https://doi.org/10.1167/iovs.66.4.34","url":null,"abstract":"<p><strong>Purpose: </strong>To present new clinical features of juxtapapillary retinal capillary hemangiomas (JRCHs), assess the risk of von Hippel-Lindau (VHL) disease, and explore the genotype-phenotype correlations in patients with JRCH.</p><p><strong>Methods: </strong>Fifty patients with JRCH were included. Multimodal retinal imaging including optical coherence tomography angiography (OCTA), visual acuity, presence of peripheral RCHs, affected lateralities, systemic evaluation for VHL disease, and underlying VHL variants were reviewed.</p><p><strong>Results: </strong>Of 59 eyes, 48 had classic JRCHs, whereas 11 had atypical JRCHs (type B, if it broke through the inner limiting membrane: 3 eyes; type A, if not: 8 eyes). Compared with atypical type A, which was indolent, type B might warrant surgical interventions. Better final visual acuity (P < 0.0001), fewer peripheral RCHs (P = 0.02), and lower prevalence of large peripheral RCHs (>1.5 mm) (P = 0.027) were observed in eyes with atypical JRCHs than classic JRCHs. VHL was diagnosed clinically in 72% of patients, and 22 VHL variants were identified, including 5 novel variants. Patients with truncating variants had a higher prevalence of atypical JRCHs than those with single amino acid substitution/deletion variants (P = 0.009). Patients with bilateral VHL-JRCHs were more likely to have large peripheral RCHs (P = 0.02) and less likely to harbor β-domain single amino acid substitution/deletion variants (P = 0.066) than those with unilateral VHL-JRCHs.</p><p><strong>Conclusions: </strong>Atypical JRCHs, with distinctive OCTA characteristics and favorable visual outcomes, are less complicated by peripheral RCHs and more relevant to truncating variant genotypes. JRCH monitoring should incorporate OCTA classification and genotype analysis.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"34"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi.","authors":"Julia Boldu-Roig, Elena Sorli-Clemente, Aida Kuljuh-Causevic, Alba Loras, Alfonso Anton, Conrado Martinez-Cadenas","doi":"10.1167/iovs.66.4.62","DOIUrl":"https://doi.org/10.1167/iovs.66.4.62","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the diversity of pigmented benign lesions in the human iris, aiming to provide insights for forensic, biomedical, and ophthalmological research.</p><p><strong>Methods: </strong>A cohort of 1014 individuals of Spanish descent was analyzed. Digital slit-lamp photographs were used to evaluate iris pigmentation traits, including iris freckles, iris nevi, iris color, and the presence of a pigmented collarette. A candidate gene association study was performed on these pigmentation traits.</p><p><strong>Results: </strong>Both iris freckles and nevi were associated with increased age, female sex, pigmented collarette, and eye color (mainly green). Additionally, higher freckle and nevus counts were observed in participants with more facial freckles and cutaneous nevi and were positively associated with each other. After adjustment, a positive significant association was identified between the presence of iris freckles and genetic variants in the IRF4, HERC2, and OCA2 genes, as well as SLC45A2, although only in females. The prevalence of iris nevi was significantly lower compared to freckles. The presence of iris nevi also showed positive associations with genetic variants in IRF4 and HERC2, plus TYR in brown-eyed individuals only. No association was identified between MC1R, the major cutaneous freckle gene, and the presence of iris freckles or nevi.</p><p><strong>Conclusions: </strong>The genetic basis of iris freckles and nevi reveals associations with well-known pigmentation genes (particularly IRF4), as well as eye color, sex, and age. These findings contribute to our understanding of iris pigmented benign lesions and their potential implications in conditions such as uveal melanoma, age-related macular degeneration, or solar damage.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"62"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TUT7-Mediated Uridine Degradation of MCPIP1 in the Pterygium to Regulate TRAF6-Mediated Autophagy.","authors":"Juanjuan Li, Hao Ji, Yanze Xu, Weijia Zhang, Yuru Yin, Yubing Zhao, Yan Du, Anni He, Dandan Zhao","doi":"10.1167/iovs.66.4.41","DOIUrl":"https://doi.org/10.1167/iovs.66.4.41","url":null,"abstract":"<p><strong>Purpose: </strong>Pterygium is a prevalent ocular disorder characterized by the proliferation of fibrovascular tissue beneath the conjunctiva. The precise role of monocyte chemotactic protein-induced protein 1 (MCPIP1) in the pterygium remains elusive.</p><p><strong>Methods: </strong>Immunohistochemistry, Western blot, and quantitative RT-PCR were used to analyze the expression of MCPIP1 and other regulators. The role of MCPIP1 in pterygium fibrosis was assessed both in vitro and in vivo. Further, Co-immunoprecipitation and ubiquitination assays were performed to investigate the impact of MCPIP1 on the TRAF6-BECN1 signaling pathway. The role of MCPIP1 in autophagy regulation was studied through immunofluorescence experiments, while transwell migration and wound-healing assays were employed to assess the migratory and proliferative capabilities of human pterygium fibroblast (HPF) cells. Additionally, in vitro transcription and uridylylation experiments provided mechanistic insights into the regulatory role of terminal uridyltransferase 7 (TUT7) on MCPIP1 mRNA.</p><p><strong>Results: </strong>The results showed that MCPIP1 negatively regulates the fibrosis and autophagy of HPF cells, thereby inhibiting the development of pterygium. In terms of its mechanism, MCPIP1 facilitated the assembly of the TRAF6-BECN1 complex, augmented BECN1 ubiquitination, induced autophagy, and attenuated cell migration and proliferation abilities while suppressing HPFs' cell fibrosis. The function of MCPIP1 was weakened by TUT7, which reduced the stability of MCPIP1 mRNA and thus alleviated the negative regulatory effect of MCPIP1 on pterygium.</p><p><strong>Conclusions: </strong>In summary, the current study revealed that MCPIP1 promotes autophagy by positively regulating the TRAF6-BECN1 signaling pathway, thereby suppressing pterygium development. Conversely, TUT7 uridylylation modulated MCPIP1's regulation of pterygium.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"41"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of SGLT2 Inhibitors Versus DPP-4 Inhibitors and Age-Related Macular Degeneration in Patients WithType 2 Diabetes: A Multinational Cohort Study.","authors":"Ssu-Yu Pan, Chien-Hsiang Weng, Shang-Feng Tsai, Hui-Ju Lin, Jun-Fu Lin, Ching-Heng Lin, I-Jong Wang, Chien-Chih Chou","doi":"10.1167/iovs.66.4.58","DOIUrl":"https://doi.org/10.1167/iovs.66.4.58","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the impact of sodium-glucose cotransporter 2 (SGLT2) and dipeptidyl peptidase 4 (DPP-4) inhibitors on age-related macular degeneration (AMD) risk among patients with type 2 diabetes mellitus (T2DM).</p><p><strong>Methods: </strong>This multinational, retrospective cohort study used electronic medical records from healthcare institutions across 21 countries. Adults 50 years or older with T2DM who had a prior prescription of metformin and initiated SGLT2 or DPP-4 inhibitors from 2013 to 2023 were included. The SGLT2 and DPP-4 inhibitor groups were propensity score matched in a 1:1 ratio to balance baseline characteristics and were followed for up to 5 years to observe the occurrence of AMD. Statistical analysis was performed using the Cox proportional hazards model and Kaplan-Meier analysis.</p><p><strong>Results: </strong>Our final analysis included 20,966 T2DM patients prescribed SGLT2 inhibitors and 20,966 prescribed DPP-4 inhibitors. Compared to the DPP-4 inhibitor group, the SGLT2 inhibitor group was associated with significantly lower risks of AMD (hazard ratio [HR], 0.71; 95% confidence interval [CI], 0.58-0.85) and dry AMD (HR, 0.61; 95% CI, 0.46-0.80) but not wet AMD (HR, 0.74; 95% CI, 0.48-1.16). SGLT2 inhibitors compared with DPP-4 inhibitors were linked to a reduced risk of AMD in the White population, patients prescribed empagliflozin or dapagliflozin, and individuals with glycated hemoglobin < 8.5%, estimated glomerular filtration rate ≥ 60 mL/min/1.73 m2, hypertension, or dyslipidemia, regardless of body mass index level.</p><p><strong>Conclusions: </strong>In patients with T2DM, those prescribed SGLT2 inhibitors may experience lower risks of AMD and dry AMD compared to those prescribed DPP-4 inhibitors.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"58"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Structure-Function Associations Between Quantitative Contrast Sensitivity Function And Peripapillary Optical Coherence Tomography Angiography in Diabetic Retinopathy.","authors":"Sierra K Ha, Xinyi Ding, Francesco Romano, Katherine M Overbey, Filippos Vingopoulos, Itika Garg, Cade F Bennett, Isabella Stettler, Ioanna Ploumi, Grace Baldwin, Matthew J Finn, Peyman Razavi, Demetrios G Vavvas, Deeba Husain, Nimesh A Patel, Leo A Kim, John B Miller","doi":"10.1167/iovs.66.4.69","DOIUrl":"https://doi.org/10.1167/iovs.66.4.69","url":null,"abstract":"<p><strong>Purpose: </strong>To assess changes in radial peripapillary capillary (RPC) microvasculature and their impact on visual function, measured by visual acuity (VA) and contrast sensitivity, in diabetic retinopathy (DR).</p><p><strong>Methods: </strong>This was a cross-sectional study in 96 eyes of 67 patients, including controls, diabetes without DR (DMnoDR), nonproliferative DR (NPDR), and proliferative DR (PDR) groups. Participants underwent same-day quantitative contrast sensitivity function (qCSF) and 6 × 6 mm OCT angiography (OCTA) centered on the optic disc. The Peripapillary Nerve Fiber Layer Microvasculature Density algorithm (ARI Network) was used to calculate capillary perfusion density (total area of perfused microvasculature per unit area), capillary flux index (CFI, total weighted area of perfused microvasculature per unit area), and retinal nerve fiber layer (RNFL) thickness surrounding the optic disc. Mixed-effects multivariable regression models, controlling for age, hypertension, and lens status, evaluated associations between RPC OCTA metrics, DR severity, VA, and qCSF.</p><p><strong>Results: </strong>Significant RPC microvascular changes were observed across DR stages. Capillary perfusion density decreased with DR severity and even before retinopathy onset in DMnoDR versus controls (βavg = -0.42, P = 0.021). PDR compared to NPDR showed a significant decrease in CFI (β = -1.02 to -0.92, P < 0.01) and in RNFL (βavg = -0.71, P = 0.033). CFI had significant associations with qCSF at various spatial frequencies (β = 0.20 to 0.34, P = 0.002 to 0.042), but not with VA.</p><p><strong>Conclusions: </strong>Radial peripapillary capillary perfusion density worsens with onset of diabetes and increasing severity of DR while capillary flux index is more significantly affected later in disease. Structure-function associations suggest that DR-induced peripapillary microvascular changes are more strongly associated with contrast sensitivity changes than with visual acuity.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"69"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12025313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Directional Motion Sensitivity in Visual Snow Syndrome and Its Relation to Trailing-Type Palinopsia.","authors":"Tatiana S Obukhova, Tatiana A Stroganova, Ada R Artemenko, Anastasiia V Petrokovskaia, Elena V Orekhova","doi":"10.1167/iovs.66.4.24","DOIUrl":"https://doi.org/10.1167/iovs.66.4.24","url":null,"abstract":"<p><strong>Purpose: </strong>Visual Snow Syndrome (VSS) is characterized by visual perceptual distortions, potentially linked to increased neural excitability and/or decreased inhibition in the visual cortex. If present, these putative physiological abnormalities may alter motion direction sensitivity. Trailing-type palinopsia (TTP), commonly associated with VSS, may further affect motion sensitivity. This study aimed to investigate the sensitivity to direction of motion and its dependence on stimulus size in patients with VSS using the Spatial Suppression paradigm.</p><p><strong>Methods: </strong>We assessed motion duration discrimination thresholds for small (1 degree), medium (2.5 degrees), and large (12 degrees) high-contrast gratings in 23 patients with VSS and 27 healthy control participants. The Spatial Suppression Index (SSI) quantified size-dependent increases in duration thresholds. Visual Discomfort Questionnaire scores and VSS symptom ratings, including TTP, afterimages, photophobia, etc., were also collected.</p><p><strong>Results: </strong>Patients with VSS reported higher visual discomfort and perceptual disturbances, but no group differences were found in duration thresholds or SSI. Notably, higher TTP scores were associated with lower duration thresholds, indicating a facilitatory effect of TTP on sensitivity to direction of motion.</p><p><strong>Conclusions: </strong>Our findings indicate that when VSS is regarded as a unified diagnostic category, it is not associated with impaired motion direction sensitivity or abnormal center-surround suppression. However, our preliminary results suggest that an absence or presence of comorbid TTP has a qualitatively different effect on directional sensitivity in patients with VSS. The facilitatory effect of TTP on motion sensitivity provides insight into the functional concomitants of TTP, and warrants further exploration, as it may significantly influence experimental outcomes.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"24"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11993129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression Distribution of Keratins in Normal and Pathological Corneas and the Regulatory Role of Krt17 on Limbal Stem Cells.","authors":"Min Wang, Rong Chen, Yao Wang, Ya Li, Qingjun Zhou, Rui Cao, Yizhou Li, Hongqi Ge, Xiaolei Wang, Lingling Yang","doi":"10.1167/iovs.66.4.55","DOIUrl":"https://doi.org/10.1167/iovs.66.4.55","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to compare variations in keratins (KRTs), particularly stress KRTs, under normal and pathological conditions, with a specific focus on investigating the role of KRT17.</p><p><strong>Methods: </strong>This research examined changes in KRT and limbal stem cell (LSC) markers in normal and various pathological corneas using mRNA and proteomic sequencing data alongside single-cell sequencing data from normal mouse corneas. The effects of the Krt17 recombinant protein and specific small interfering RNA on the clonal formation and proliferation of human limbal epithelial cells (HLECs) were investigated. mRNA sequencing was conducted on Krt17 knockdown HLECs, and the findings were validated using qPCR, immunofluorescence staining, neutrophil chemotaxis, and herpes simplex virus 1 infection assay. The STRING database was used to predict Krt17's interacting proteins.</p><p><strong>Results: </strong>Various KRTs in the corneal epithelia exhibited differences in expression levels and patterns. Under pathological conditions, stress KRTs Krt17 and Krt16 were upregulated, while differentiation-related Krt12 was downregulated, and the expression of the LSC markers Krt17, Krt14, and IFITM3 were commonly increased. Supplementation and intervention experiments confirmed that Krt17 promotes clonal formation and proliferation in HLECs. Krt17 knockdown resulted in the upregulation of genes related to inflammation and defense responses, while downregulating molecules associated with differentiation pathways. Krt17 knockdown promoted neutrophil chemotaxis and alleviated herpes simplex virus 1 infection in HLECs.</p><p><strong>Conclusions: </strong>KRTs play a crucial role in the homeostasis and pathological regulation of the corneal epithelium. The stress Krt17 located in LSCs is involved in regulating the stemness, proliferation, and differentiation of LSCs, as well as immune and defense responses.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"55"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of Pathological Lymphangiogenesis via Circular RNA-Mediated Cholesterol Metabolism Remodeling.","authors":"Shuting Lu, Qian Liu, Fan Ye, Ziran Zhang, Lianjun Shi, Xiumiao Li, Wan Mu, Qin Jiang, Biao Yan","doi":"10.1167/iovs.66.4.26","DOIUrl":"https://doi.org/10.1167/iovs.66.4.26","url":null,"abstract":"<p><strong>Purpose: </strong>Lymphangiogenesis plays important roles in the pathogenesis of human diseases, including inflammatory ocular diseases, metabolic diseases, and cancers, by affecting lipid metabolism and immune homeostasis. Despite growing evidence showing that circular RNAs (circRNAs) act as the regulators of inflammatory and metabolic pathways, their roles in lymphatic dysfunction remain unclear. This study aims to explore the involvement of circRNA-KIF6 (cKIF6) in pathological lymphangiogenesis and elucidate the underlying mechanism.</p><p><strong>Methods: </strong>The cKIF6 expression was evaluated in mouse-sutured corneas and lymphatic endothelial cells (LECs) isolated from juvenile foreskin under inflammatory conditions. Functional assays, including viability, proliferation, migration, and tube formation, were conducted on LECs after cKIF6 silencing. Lymphangiogenesis was evaluated using mouse-sutured cornea and Matrigel plug models. Mechanistic studies explored the role of cKIF6 as a molecular sponge for miR-582 and its downstream effect on methylsterol monooxygenase 1 (MSMO1).</p><p><strong>Results: </strong>The cKIF6 expression was significantly elevated in mouse-sutured corneas and inflamed LECs. Silencing cKIF6 impaired LEC viability, proliferation, migration, and tube formation, leading to reduced lymphangiogenesis in both in vitro and in vivo models. Mechanistically, cKIF6 acted as a miR-582 sponge, resulting in elevated MSMO1 expression and increased cholesterol content in LECs. The augmented proliferation, migration, and tube formation abilities of cKIF6-overexpressing LECs were attenuated by the inhibitor of cholesterol biosynthesis.</p><p><strong>Conclusions: </strong>The cKIF6 regulates lymphangiogenesis by targeting cholesterol metabolism, making it a promising therapeutic target for lymphangiogenesis-related diseases.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"26"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12005444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinal Structure and Microcirculation Alterations in Patients With Papillary Thyroid Carcinoma: An Optical Coherence Tomography and Angiography Study.","authors":"Yan-Jie Li, Zeng-Yu Zhang, Tian-Yue Liu, Hai-Yan Liu, Lu-Lu Shi, Rong-Xia Cao, Chao-Ran Lv, Zeng-Hui Zhang","doi":"10.1167/iovs.66.4.73","DOIUrl":"https://doi.org/10.1167/iovs.66.4.73","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to compare the retinal thickness, vessel density, and perfusion density in patients with papillary thyroid carcinoma (PTC) and healthy controls using optical coherence tomography (OCT) and OCT angiography. And investigating the influence of serological parameters and carcinoma signs with retinal structural and microcirculatory in PTC patients.</p><p><strong>Methods: </strong>This cross-sectional study included 174 PTC patients (345 eyes) and 179 healthy subjects (358 eyes). Serological parameters (complete blood count, thyroid function, and lymphocyte subsets) and retinal thickness and flow parameters were compared between the two groups, and the correlations of retinal parameters with serological parameters in the PTC group. We investigated the effect of carcinoma signs (tumor size, focus location, lymphatic metastasis, surrounding tissue invasion, and BRAF mutations) on retinal parameters.</p><p><strong>Results: </strong>PTC patients exhibited significantly thinner retinal thickness and reduced vessel density and perfusion density in the macular superficial vascular plexus compared with healthy controls. Platelet-to-lymphocyte ratios and thyroglobulin were inversely correlated with retinal parameters, and CD4+ T cells were positively correlated. Aggressive carcinoma signs thicken the retinal thickness more than nonaggressive cases.</p><p><strong>Conclusions: </strong>The findings indicate a trend toward macular thinning and retinal microcirculatory dysfunction in the PTC patients, and these changes may be related to chronic inflammation and immune dysregulation secondary to cancer progression. OCT and OCT angiography show potential as noninvasive tools for detecting subclinical retinal abnormalities in PTC patients, and retinal alterations may serve as a surrogate marker for systemic inflammation. However, further studies are needed to address confounders and establish causality.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"73"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12032848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144018138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.","authors":"Yi-Han Huang, Yu-Shu Huang, Chien-Yu Lin, Ying-Ju Lai, Chang-Hao Yang, Tzzy-Chang Ho, Yi-Ting Hsieh, Po-Ting Yeh, Tso-Ting Lai, Chao-Wen Lin, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen","doi":"10.1167/iovs.66.4.59","DOIUrl":"https://doi.org/10.1167/iovs.66.4.59","url":null,"abstract":"<p><strong>Purpose: </strong>This study documents the natural disease progression and genotype-phenotype correlation in RPGR-related retinitis pigmentosa (RP) in the Taiwanese population.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on individuals with molecularly confirmed RPGR-related disease-causing variant(s). Demographics, best-corrected visual acuity (BCVA), spherical equivalent (SE), fundus autofluorescence, and optical coherence tomography were assessed.</p><p><strong>Results: </strong>Fifty-two individuals from 31 families were diagnosed with RPGR-related disease-causing variant(s). Mean follow-up time was 4.2 years. Among 21 genetic variants, 67% involved the open reading frame 15 region (ORF15) variant, and 33% were Exon 1-14 variants. Male patients (69%) had a mean BCVA of 0.9 logMAR and SE of -3.8 D in the right eye and -3.0 D in the left eye, with high myopia in 19% to 20%. BCVA progression was 0.031 logMAR/year in the ORF15 group (P < 0.001) and 0.011 logMAR/year (P = 0.457) in the Exon 1-14 group. An exponential decay model revealed rapid ellipsoid zone (EZ) constriction during childhood in the ORF15 group. Female patients/carriers (31%) had a mean BCVA of 0.3 logMAR and SE of -4.3D, with high myopia of 31% in the right eye and 46% in the left eye. Among symptomatic females, 73% exhibited clinically significant disease. The most common mutation was the c.2592dup variant (15%).</p><p><strong>Conclusions: </strong>This first longitudinal analysis of RPGR-related RP in Taiwan presents a predictive model of EZ constriction. Findings suggest earlier onset in Exon 1-14 variants and a tendency for faster progression in the ORF15 group, informing insights for genetic therapy development and disease management.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"59"},"PeriodicalIF":5.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144018502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}