CorneaPub Date : 2025-05-09DOI: 10.1097/ICO.0000000000003888
Jessica E Ludwig, Sudhir Verma, Alexa Thibodeau, Kirsten S Evonuk, Nambi Nallasamy, Shahzad I Mian, Vivien J Coulson-Thomas, Onkar B Sawant
{"title":"Temporal Differences in the Expression of p63α and Proliferation of Limbal Epithelial Stem Cells From Donor Corneas.","authors":"Jessica E Ludwig, Sudhir Verma, Alexa Thibodeau, Kirsten S Evonuk, Nambi Nallasamy, Shahzad I Mian, Vivien J Coulson-Thomas, Onkar B Sawant","doi":"10.1097/ICO.0000000000003888","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003888","url":null,"abstract":"<p><strong>Purpose: </strong>Limbal stem cell deficiency is a blinding corneal disease that requires transplantation to replenish the limbal epithelial stem cells (LESCs) and restore vision. Keratolimbal allografts from cadaveric donors are commonly used as a source for LESCs. The goal of this study was to verify the efficacy of Food and Drug Administration-approved hypothermic corneal storage solutions in preserving LESCs within human donor corneas over time.</p><p><strong>Methods: </strong>Limbal segments from deceased donor corneas were stored in Food and Drug Administration-approved corneal storage solutions for 0, 4, or 7 days. Tissues were then processed for immunohistochemistry, and number of p63α+ cells within the limbus were calculated. LESC density was calculated as the number of p63α+ cells per total number of cells. LESCs were isolated from donor corneas after 7 days of hypothermic storage and subjected to a colony formation assay, and the numbers of holoclones were calculated.</p><p><strong>Results: </strong>The average density of p63α+ cells was 37.4% on day 0, 27.3% on day 4, and 10.9% on day 7 (P < 0.05) in limbal segments. Holoclones (15.33 ± 3.5) were formed by cells isolated from the limbal region of donor corneas after 7 days in the hypothermic storage conditions, indicating that viable LESCs are still present in human donor corneas after 7 days in storage.</p><p><strong>Conclusions: </strong>Although the density of p63α+ LESCs significantly decreases over time, viable LESCs are present in the donor corneas after 7 days in hypothermic storage conditions. Thus, failure of detection or absence of expression of standard marker(s) does not necessarily indicate the loss of functional LESCs.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CorneaPub Date : 2025-05-08DOI: 10.1097/ICO.0000000000003893
Oded Rock, Margarita Safir, Michael Mimouni, Roie Holzman, Irit Bahar, Avihu Pereg, Dan Gaton
{"title":"Diagnostic Eye Drops and Pain Sensitivity: A Marker for Dry Eye Syndrome?","authors":"Oded Rock, Margarita Safir, Michael Mimouni, Roie Holzman, Irit Bahar, Avihu Pereg, Dan Gaton","doi":"10.1097/ICO.0000000000003893","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003893","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this prospective study was to evaluate whether the duration and intensity of pain induced by commonly used diagnostic eye drops correlate with the presence and severity of dry eye syndrome.</p><p><strong>Methods: </strong>This study included 33 patients (66 eyes) undergoing routine evaluations at tertiary ophthalmology clinics from 2016 to 2017. Each eye received one drop of either oxybuprocaine or tropicamide. Pain intensity and duration were assessed using a visual analog scale and a stopwatch. Dry eye syndrome was diagnosed and graded according to international guidelines, incorporating clinical signs and standardized tests. Statistical analyses included Kruskal-Wallis tests for discrete variables and Pearson correlations for continuous variables, with significance set at P <0.05.</p><p><strong>Results: </strong>Patients with dry eye syndrome experienced significantly longer pain duration compared with those with healthy eyes (P = 0.035). Pain intensity was notably higher in patients with severe dry eye (P = 0.048). Duration of pain correlated with corneal fluorescein staining (P = 0.027). In eyes treated with oxybuprocaine, shorter tear break-up time and lower Schirmer test results were significantly associated with pain response (P = 0.021 and P = 0.037, respectively). In eyes treated with tropicamide, pain intensity was significantly associated with functional limitations (P = 0.042).</p><p><strong>Conclusions: </strong>This study highlights that pain sensitivity to commonly used diagnostic eye drops is a potential marker for the presence and severity of dry eye syndrome. Clinicians should consider evaluating pain responses during routine examinations as a simple, supplementary tool for identifying patients who may benefit from further diagnostic investigations and tailored management.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Predictive Factors for Long-Term De Novo Intraocular Pressure Elevation After Descemet Membrane Endothelial Keratoplasty.","authors":"Yonca Asfuroğlu, Emine Esra Karaca, Mahmut Asfuroğlu, Cenk Zeki Fikret, Özlem Evren Kemer","doi":"10.1097/ICO.0000000000003889","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003889","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to examine the prevalence, associated risk factors, and management of late-onset intraocular pressure (IOP) elevation after Descemet membrane endothelial keratoplasty (DMEK).</p><p><strong>Methods: </strong>Data of 415 patients who underwent DMEK between January 2018 and August 2024 were retrospectively analyzed and 54 eyes of 54 patients who developed de novo IOP elevation during the follow-up period were included. IOP elevation was defined as IOP >22 mm Hg or an increase of >10 mm Hg compared with the preoperative baseline values. Patients with preexisting glaucoma were excluded. The patients' demographic data, ocular risk factors, indications for DMEK, tamponade type, rebubbling rates, use of antiglaucomatous medication, peak and regulated IOP, necessity for glaucoma surgery, best-corrected visual acuity, and mean follow-up time were evaluated.</p><p><strong>Results: </strong>Among the 415 patients who underwent DMEK, 54 (13%) experienced IOP elevation. After switching from dexamethasone to loteprednol etabonate 0.5%, 23 patients (42.5%) had IOP control without antiglaucomatous treatment. Patients with peripheral anterior synechiae exhibited an increased risk of using antiglaucomatous medication and undergoing antiglaucomatous surgery (P = 0.03, OR 3.84, confidence interval, 1.13-12.95; P = 0.03, OR, 6.2, 95% confidence interval, 1.11-34.44, respectively). Peak IOP was higher in eyes with pseudoexfoliation in the postoperative period after DMEK (P = 0.03).</p><p><strong>Conclusions: </strong>Pseudoexfoliation, prolonged steroid use, and peripheral anterior synechiae were identified as risk factors for IOP elevation after DMEK. In these complex cases, switching to a milder steroid at an earlier stage may be recommended, provided that the balance is maintained to avoid compromising graft survival.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CorneaPub Date : 2025-05-06DOI: 10.1097/ICO.0000000000003876
Sandrine Ninotta, David Toubeau, Tomy Sagnial, Zhiguo He, Sylvain Poinard, Gauthier Travers, Philippe Gain, Gilles Thuret, Marc Muraine
{"title":"Comparison of Two Commercial Medias for Corneal Organ Culture and Deswelling: CorneaMax/CorneaJet Versus Tissue-C/Carry-C.","authors":"Sandrine Ninotta, David Toubeau, Tomy Sagnial, Zhiguo He, Sylvain Poinard, Gauthier Travers, Philippe Gain, Gilles Thuret, Marc Muraine","doi":"10.1097/ICO.0000000000003876","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003876","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the endothelial cell density (ECD) of corneas stored in organ culture (OC) using CorneaMax/CorneaJet and Tissue-C/Carry-C media.</p><p><strong>Methods: </strong>Three complementary experiments included paired corneas stored in CorneaMax or Tissue-C and subsequently deswelled in CorneaJet or Carry-C. In experiment 1, storage media renewal was performed only for CorneaMax as per the manufacturer's guidelines, with storage/deswelling times of 30/4 days (D). In experiment 2, both storage media were renewed on D4, with storage/deswelling time of 28/2 days. In experiment 3, both storage media were renewed, with storage/deswelling times of 22/4 days. In addition to ECD (in the three experiments), the viable ECD (Hoechst 33342/Calcein-AM staining) and central corneal thickness (CCT) were measured in exp. 2.</p><p><strong>Results: </strong>In experiment 1 (16 pairs), ECD was significantly higher in CorneaMax than in Tissue-C on D30 (2265 ± 379 vs. 2097 ± 344 cells/mm2, P = 0.0248) and postdeswelling (2106 ± 405 vs. 1910 ± 355 cells/mm2, P = 0.0290). In experiment 2 (10 pairs), ECD did not differ after 28 days of OC; however, CCT was lower on D4, higher on D28 in Tissue-C, and showed no difference after deswelling. Postdeswelling, viable ECD was significantly higher in CorneaJet versus Carry-C (1647 ± 324 vs. 1436 ± 235 cells/mm2, P = 0.0189). In experiment 3 (eight pairs), ECD showed no significant difference.</p><p><strong>Conclusions: </strong>Endothelial survival is reduced in Tissue-C/Carry-C unless storage is limited to 3 weeks and the medium is renewed. The major corneal edema in Tissue-C may contribute to the reduced ECD.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CorneaPub Date : 2025-05-02DOI: 10.1097/ICO.0000000000003891
David Mikhail, Daniel Milad, Mona Harissi-Dagher
{"title":"Letter Regarding: Intermediate-Term Outcomes and Complications of Ahmed Glaucoma Valve in Type 1 Keratoprostheses.","authors":"David Mikhail, Daniel Milad, Mona Harissi-Dagher","doi":"10.1097/ICO.0000000000003891","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003891","url":null,"abstract":"","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CorneaPub Date : 2025-05-02DOI: 10.1097/ICO.0000000000003887
Larissa Gouvea, Jyh Haur Woo, Manokamna Agarwal, Emily Witsberger, Gregory H Borschel, Kamiar Mireskandari, Asim Ali
{"title":"Outcomes of Corneal Transplantation After Minimally Invasive Corneal Neurotization in Children.","authors":"Larissa Gouvea, Jyh Haur Woo, Manokamna Agarwal, Emily Witsberger, Gregory H Borschel, Kamiar Mireskandari, Asim Ali","doi":"10.1097/ICO.0000000000003887","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003887","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the outcomes of corneal transplantation after minimally invasive corneal neurotization (MICN) in pediatric patients.</p><p><strong>Methods: </strong>Medical records of all children who underwent corneal transplantation post-MICN with sural nerve graft for neurotrophic keratopathy between 2015 and 2021 were reviewed retrospectively. Data collected included demographic information, ocular comorbidities, maximum corneal sensitivity by Cochet-Bonnet aesthesiometer (CBA) preoperatively and postoperatively measured in the central graft area, graft survival (primary outcome), and rejection.</p><p><strong>Results: </strong>Of 28 eyes which underwent MICN, six underwent corneal transplant surgery (mean age 11.9 ± 4.4 years) 2.4 ± 0.4 years after initial surgery. Mean maximum recorded CBA across all quadrants before corneal transplantation was 53.3 ± 9.4 mm. Reepithelialization was observed in all eyes by postoperative month 2. Mean follow-up was 4.5 ± 2.1 years. Penetrating keratoplasty was performed in 2 cases, and deep anterior keratoplasty in four cases. Graft survival at final follow-up was 83.3%. Mean recorded central CBA after corneal transplantation was 53.8 ± 8.2 mm. No improvement was observed in visual acuity from baseline (1.2 ± 0.4 logMAR) to final postoperative follow-up (1.1 ± 0.4 logMAR; P = 0.68).</p><p><strong>Conclusions: </strong>Corneal transplantation after corneal neurotization has survival rates >80%. Manual deep anterior keratoplasty can be performed in patients who have not undergone previous penetrating keratoplasty. Despite graft clarity, improvement in best-corrected visual acuity may be limited by amblyopia in this age group.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CorneaPub Date : 2025-05-02DOI: 10.1097/ICO.0000000000003877
Silke Oellerich, Daniel F Larkin, Sorcha Ní Dhubhghaill
{"title":"Drug Repurposing for Corneal Diseases-Should We Look Back More Often to Move Forward?","authors":"Silke Oellerich, Daniel F Larkin, Sorcha Ní Dhubhghaill","doi":"10.1097/ICO.0000000000003877","DOIUrl":"10.1097/ICO.0000000000003877","url":null,"abstract":"","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":"803-805"},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143992739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CorneaPub Date : 2025-05-02DOI: 10.1097/ICO.0000000000003892
Radwa Elsharawi, Daniel Lee, Abhiniti Mittal, Winston D Chamberlain, Joseph Tauber, Travis K Redd
{"title":"Use of Decellularized Descemet Membrane Anterior Keratoplasty to Facilitate Epithelialization of Pediatric Penetrating Keratoplasty for Total Sclerocornea.","authors":"Radwa Elsharawi, Daniel Lee, Abhiniti Mittal, Winston D Chamberlain, Joseph Tauber, Travis K Redd","doi":"10.1097/ICO.0000000000003892","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003892","url":null,"abstract":"<p><strong>Purpose: </strong>To report the first known use of combined decellularized Descemet membrane anterior keratoplasty with penetrating keratoplasty (PKP) in a pediatric patient.</p><p><strong>Methods: </strong>A 2-month-old boy with bilateral sclerocornea underwent bilateral sequential PKP. In the left eye, PKP performed at 2 months of age was complicated by a persistent epithelial defect postoperatively with a 1 month delay in epithelialization. As a result, the patient underwent PKP with a combined decellularized Descemet membrane corneal allograft implantation in the right eye at 3 months of age to enhance early postoperative healing. This was performed by creating a central 3-mm superficial keratectomy before placing Descemet membrane allograft onto the full-thickness graft.</p><p><strong>Results: </strong>Compared to the 1-month delay in epithelialization after PKP in the left eye, the right eye, which underwent combined PKP and decellularized Descemet membrane corneal allograft, was fully epithelialized by the first postoperative week. The grafts remain clear and intact at 12 months of age. The patient exhibited significant improvement in visual behavior.</p><p><strong>Conclusions: </strong>This case highlights the successful use of decellularized Descemet membrane anterior keratoplasty in preventing a persistent epithelial defect in the early postoperative period for a pediatric patient with sclerocornea. This may be a viable option for similar pediatric cases with delayed epithelial healing while promoting graft survival and minimizing the need for additional surgical interventions.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143961762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Intrastromal Keratoplasty Using Biosynthetic Corneas Versus Human Donor Corneas in Advanced Keratoconus.","authors":"Vidit Bansal, Aafreen Bari, Mehrdad Rafat, Rajesh Sinha, Tushar Agarwal, Prafulla Kumar Maharana, Dewang Angmo, Tanuj Dada, Jeewan Singh Titiyal, Shideh Tabe, Alina Miron, Namrata Sharma","doi":"10.1097/ICO.0000000000003882","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003882","url":null,"abstract":"<p><strong>Purpose: </strong>The objective of this study was to compare the clinical outcomes of intrastromal keratoplasty using biosynthetic corneas with human donor corneas in cases of advanced keratoconus.</p><p><strong>Methods: </strong>A prospective nonblinded randomized controlled study was conducted at a tertiary eye center in India. Treatment-naïve patients with advanced keratoconus aged 18 years or older were included. Twenty eyes were randomized into 2 groups-group 1 (human donor corneal lenticule, n = 10) and group 2 (biosynthetic corneal lenticule, n = 10). Efficacy analyses included an increase in the thinnest pachymetry and a decrease in the maximum keratometry (Kmax). Safety analyses included any adverse events in the postoperative period.</p><p><strong>Results: </strong>At 6 months postoperatively, the rise in the thinnest pachymetry in group 1 was 346.8 ± 40.82 to 486.7 ± 15.7 μm (P < 0.001) and in group 2 was 366.2 ± 31.3 to 548.3 ± 59.1 μm (P < 0.001). The biosynthetic group exhibited a significant increase in the thinnest pachymetry (P = 0.005). However, both groups showed a similar decrease in Kmax (71.06 ± 7.95 to 63.3 ± 3.74 D in group 1 and 69.13 ± 8.54 to 61.5 ± 6.2 D in group 2; P = 0.44). No adverse events were seen at 6 months of follow-up.</p><p><strong>Conclusion: </strong>Femtosecond-assisted intrastromal implantation of biosynthetic corneas is a safe and effective alternative to human donor corneas in cases of advanced keratoconus.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CorneaPub Date : 2025-04-29DOI: 10.1097/ICO.0000000000003883
Reziwan Maimaitiming, Ru Zhao, Lin Ding, Maierdang Ailimu, Yanli Qin, Gulmira Yasin, Xinping Hou, Tao Shen
{"title":"A Novel Homozygous Nonsense Mutation in TACSTD2 Gene Causes Gelatinous Drop-like Corneal Dystrophy in a Chinese Consanguineous Family: A Case Report and Literature Review.","authors":"Reziwan Maimaitiming, Ru Zhao, Lin Ding, Maierdang Ailimu, Yanli Qin, Gulmira Yasin, Xinping Hou, Tao Shen","doi":"10.1097/ICO.0000000000003883","DOIUrl":"https://doi.org/10.1097/ICO.0000000000003883","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of gelatinous drop-like corneal dystrophy (GDLD) caused by a novel homozygous tumor-associated calcium signal transducer 2 (TACSTD2) gene mutation and summarize the correlations of clinical phenotypes and genotypes in patients with GDLD.</p><p><strong>Methods: </strong>We analyzed the clinical characteristics and treatment outcomes of a 42-year-old man with GDLD. The patient with GDLD received multiple keratoplasties, and histopathological staining of the corneal sections was performed. We performed genetic testing and clinical evaluations on all family members. In addition, we conducted a literature review of previously reported patients with GDLD with pathogenic TACSTD2 gene mutations.</p><p><strong>Results: </strong>Genetic sequencing of the proband identified a novel nonsense homozygous mutation c.588C > A in the TACSTD2 gene. The histopathological analysis revealed intense amyloid deposition in the subepithelial region of the cornea. We summarized the clinical features of patients with GDLD with 33 previously reported TACSTD2 gene mutations.</p><p><strong>Conclusions: </strong>This study reported a novel homozygous nonsense mutation in a Chinese patient with GDLD, thereby expanding the mutation spectrum of the TACSTD2 gene.</p>","PeriodicalId":10710,"journal":{"name":"Cornea","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}