Jakob Schweighofer, Hermine Agis, Maria Krauth, Ruth Donner, Marion Funk, Jan Lammer, Michal Klimek, Gerald Schmidinger, Julia Aschauer
{"title":"Corneal Findings in Patients Treated with Belantamab Mafodotin: A Prospective Case Series Focusing on Corneal Nerves.","authors":"Jakob Schweighofer, Hermine Agis, Maria Krauth, Ruth Donner, Marion Funk, Jan Lammer, Michal Klimek, Gerald Schmidinger, Julia Aschauer","doi":"10.1007/s40123-025-01147-6","DOIUrl":"https://doi.org/10.1007/s40123-025-01147-6","url":null,"abstract":"<p><strong>Introduction: </strong>This prospective case series investigated corneal epithelial and subbasal nerve plexus changes associated with belantamab mafodotin (Belamaf) therapy in patients with refractory/relapsed multiple myeloma using a multimodal imaging approach.</p><p><strong>Methods: </strong>We included eight patients (mean age 66 ± 10) scheduled for Belamaf who were monitored for at least three treatment cycles. Standard clinical eye exams with Snellen best corrected visual acuity (BCVA) measurements were complemented by epithelial thickness mapping, slit lamp photography, corneal sensitivity testing, and corneal confocal microscopy.</p><p><strong>Results: </strong>The mean drop in BCVA was limited to 1 line (20/25 to 20/32) with mean loss in sensitivity from 5.2 ± 0.4 to 8.7 ± 3.4 mg/S. Corneal epithelial thickness increased (from a mean of 62 ± 4.7 to 74 ± 6.2 μm) presenting an irregular pattern from the apex to the mid-periphery. All patients developed microcystic epithelial changes and ocular surface disease. Confocal microscopy revealed a decrease in mean nerve fiber length and density from 12.46 ± 4.94 mm/mm<sup>2</sup> and 21.87 ± 10.27/mm<sup>2</sup> at baseline to 3.27 ± 3.9 mm/mm<sup>2</sup> and 1.78 ± 3.22/mm<sup>2</sup> at last follow-up, respectively, with preserved limbal architecture.</p><p><strong>Conclusion: </strong>This prospective study confirms and further characterizes the pathognomonic epithelial changes caused by Belamaf, which are accompanied by severe impairment in subbasal nerve fiber architecture, indicating a neurotoxic effect of the medication that requires further investigation.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008475","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}
Vincenzo Papa, Danielle H Bodicoat, Angela Arteaga Duarte, John K G Dart, Maria De Francesco
{"title":"The Natural History of Acanthamoeba Keratitis: A Systematic Literature Review.","authors":"Vincenzo Papa, Danielle H Bodicoat, Angela Arteaga Duarte, John K G Dart, Maria De Francesco","doi":"10.1007/s40123-025-01152-9","DOIUrl":"https://doi.org/10.1007/s40123-025-01152-9","url":null,"abstract":"<p><strong>Introduction: </strong>Acanthamoeba keratitis (AK) was first identified in 1972 and the first patient cured with propamidine was reported in 1985. Treatment outcomes, before the advent of the first effective anti-amoebic treatment, were known to be poor and often required therapeutic keratoplasty (TK) but have not been evaluated in detail. Analysis of these outcomes has value for several reasons: it gives an historical perspective, describes the natural history of AK when the disease was minimally modified by the early treatments and provides a benchmark against which current treatments can be compared and how these have changed the therapeutic results.</p><p><strong>Methods: </strong>We conducted a systematic literature review for the period 1970-1995 using PRISMA guidelines. The population of interest comprised patients with AK treated without products having established anti-amoebic activity against both trophozoites and cysts (biguanides or diamidines). The outcomes of interest were medical cure, TK and enucleation. Proportions and 95% confidence intervals were estimated.</p><p><strong>Results: </strong>Fifty-six case reports were eligible. Risk factors for AK were reported in 44/56 patients: contact lens wear in 30/44 (68.2%) and trauma in 14/44 (31.8%). The mean time from presentation to diagnosis was 7.3 weeks (standard deviation 9.3 weeks); 13/56 (23.2%) were diagnosed within 4 weeks. Topical treatments given to patients included corticosteroids (85.2%), antibiotics (85.2%), antivirals (72.2%) and antifungals (51.8%). Final visual acuity was ≥ 20/40 in 17/33 (51.5%) patients with no missing data. Medical cures were reported in 11/56 patients (19.6%), TK in 38/56 (67.9%), other surgery in 4/56 (7.1%) and enucleation in 3/56 (5.4%).</p><p><strong>Conclusion: </strong>This study suggests that, before the availability of propamidine as the first effective treatment for AK, the clinical outcome of these patients was poor with only a few patients cured without surgery. These findings should be interpreted with caution because they rely on case reports and series that are subject to inherent bias.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024090","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}
Gregor S Reiter, Enrico Borrelli, Rosa Dolz-Marco, Raymond Iezzi, Sophie J Bakri
{"title":"Imaging of Geographic Atrophy: A Practical Approach.","authors":"Gregor S Reiter, Enrico Borrelli, Rosa Dolz-Marco, Raymond Iezzi, Sophie J Bakri","doi":"10.1007/s40123-025-01158-3","DOIUrl":"https://doi.org/10.1007/s40123-025-01158-3","url":null,"abstract":"<p><p>Geographic atrophy (GA) secondary to age-related macular degeneration is a chronic degenerative disease involving the retinal pigment epithelium, photoreceptors, and choriocapillaris leading to irreversible loss of visual function. Identification of imaging markers associated with GA development and progression has progressed over the past decades, moving from two-dimensional to three-dimensional imaging, as well as image interpretation using artificial intelligence. However, there is an open discussion about the \"must-haves\" for GA detection and follow-up as well as complementary imaging. This practical approach provides an overview of the advantages of key imaging modalities for GA and their applicability in clinical and experimental settings.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972483","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}
Gabriella Szekely, Lilit A Voskanyan, Kerry G Stephens, Long V Doan, Jennifer R Seal, Mohammed K ElMallah, Todd Fjield, David Applegate, Dale W Usner, L Jay Katz, Angela C Kothe, Tomas Navratil
{"title":"Aqueous Humor Concentrations of Travoprost Free Acid and Residual Drug in Explanted Implants from Patients Administered a Travoprost Intracameral Implant.","authors":"Gabriella Szekely, Lilit A Voskanyan, Kerry G Stephens, Long V Doan, Jennifer R Seal, Mohammed K ElMallah, Todd Fjield, David Applegate, Dale W Usner, L Jay Katz, Angela C Kothe, Tomas Navratil","doi":"10.1007/s40123-025-01130-1","DOIUrl":"10.1007/s40123-025-01130-1","url":null,"abstract":"<p><strong>Introduction: </strong>To determine the aqueous humor (AH) exposure to travoprost free acid (TFA) and the in vivo elution rate of travoprost over a 24-month period in subjects with open-angle glaucoma administered a travoprost intracameral implant, 75 µg.</p><p><strong>Methods: </strong>In this prospective, single-center, open-label study, 210 subjects (7 cohorts of 30 subjects each) were administered a travoprost intracameral implant and followed for 3-24 months. At pre-determined timepoints (3, 6, 12, 15, 18, 21, and 24 months), AH was collected, a new implant was administered, and the prior implant removed. AH samples were assayed for TFA concentrations using a validated liquid chromatography-tandem mass spectrometry method. Explants were analyzed for remaining travoprost using a validated high-performance liquid chromatography method.</p><p><strong>Results: </strong>Mean AH concentrations of TFA were 5.0, 3.7, 5.6, 2.0, 2.2, 3.8, and 3.3 ng/mL at 3, 6, 12, 15, 18, 21, and 24 months, respectively, post-administration. Mean percent travoprost remaining in explants was approximately 79%, 70%, 50%, 39%, 35%, 28%, and 16% at 3, 6, 12, 15, 18, 21 and 24 months, respectively, post-administration.</p><p><strong>Conclusions: </strong>Concentrations of TFA in AH through month 24 were above the established efficacious concentration of 0.1 ng/mL for intracameral implants, indicating that adequate TFA levels were achieved to elicit maximal intraocular pressure (IOP)-lowering efficacy, and supported by low levels of IOP in subjects through 24 months. The remaining dose of travoprost in explants at 24 months (i.e., 16%) indicates the potential for efficacious drug delivery beyond 2 years.</p><p><strong>Trial registration number: </strong>Clinical Trials.gov Identifier: NCT06582732 (31 August 2024: retrospectively registered).</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"989-1003"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Riccardo Sacconi, Simone Marra, Elena Spada, Federico Beretta, Matteo Menna, Stefano Menecozzi, Francesco Bandello, Giuseppe Querques
{"title":"Geographic Atrophy Secondary to Subclinical Angioid Streaks in Age-Related Macular Degeneration: Progression of the Disease at 2-Year Follow-Up.","authors":"Riccardo Sacconi, Simone Marra, Elena Spada, Federico Beretta, Matteo Menna, Stefano Menecozzi, Francesco Bandello, Giuseppe Querques","doi":"10.1007/s40123-025-01111-4","DOIUrl":"10.1007/s40123-025-01111-4","url":null,"abstract":"<p><strong>Introduction: </strong>The purpose of the study is to characterize the rate of progression of geographic atrophy (GA) areas in patients with age-related macular degeneration (AMD) with subclinical angioid streaks (AS), compared to patients with AMD without subclinical AS.</p><p><strong>Methods: </strong>This is a retrospective, longitudinal, case-control study. Among a cohort of patients with AMD, we selected patients with GA with subclinical AS and followed them for a 2-year follow-up. An age- and sex-matched control group with GA secondary to AMD without subclinical AS was selected. Demographics and differences in the GA progression between the two groups were analyzed.</p><p><strong>Results: </strong>Among 60 eyes of 60 patients affected by GA secondary to AMD, 20 eyes of 20 patients (mean age 82 ± 5 years old) were included in the subclinical AS group, whereas 40 eyes of 40 patients (mean age 79 ± 6 years old, p = 0.077) were in the control group. All 20 eyes of subclinical AS group showed reticular pseudodrusen at the baseline compared to 73% of patients without AS (p = 0.002). In the subclinical AS group, 90% of eyes showed peripapillary atrophy in comparison to 63% in the control group (p = 0.026). Subclinical AS eyes showed a significantly lower subfoveal choroidal thickness in comparison to the control group (124 ± 60 μm vs. 161 ± 84 μm, respectively, p = 0.043). At 2-year follow-up, the rate of progression was higher in the patients with subclinical AS; the yearly growth rate was 0.41 ± 0.17 mm/year after the square root transformation in the subclinical AS group, in comparison to 0.32 ± 0.14 mm/year in the control group (p = 0.017).</p><p><strong>Conclusions: </strong>Patients with subclinical AS showed a more aggressive phenotype of GA in comparison to AMD patients without subclinical AS, characterized by a higher rate of progression of GA areas during a 2-year follow-up.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"911-922"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006616/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143616711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Douglas Lam, Kelvin Chong, Kendrick Shih, Kelvin H Wan, Arthur Cheng
{"title":"Optimizing Diagnosis and Management of Dry Eye Disease: A Practical Framework for Hong Kong.","authors":"Douglas Lam, Kelvin Chong, Kendrick Shih, Kelvin H Wan, Arthur Cheng","doi":"10.1007/s40123-025-01129-8","DOIUrl":"10.1007/s40123-025-01129-8","url":null,"abstract":"<p><p>Dry eye disease (DED) poses a significant and escalating public health challenge. Effective diagnosis is crucial for optimal management. However, current practices are complicated and time-consuming. This paper proposes a revised framework for diagnosing and treating in Hong Kong, explicitly tailored to the local healthcare context and incorporating insights from global consensus guidelines. The framework emphasizes a streamlined assessment strategy and prioritizes direct symptom-based questioning alongside objective tests. It also includes a simplified corneal staining grading scheme to reduce complexity, considering the limited consultation time available in Hong Kong. Furthermore, the framework clearly outlines the appropriate treatment options based on the disease's severity and etiological cause(s) and focuses on the need for long-term management through follow-up or referrals. By addressing the multifaceted nature of DED and considering local healthcare constraints, this framework seeks to enhance patient outcomes through timely diagnosis and accurate assessment and treatment of DED.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"815-833"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tanner J Ferguson, David Durgan, Travis Whitt, Russell J Swan
{"title":"Varenicline Nasal Spray for the Treatment of Dry Eye Disease Following Corneal Collagen Crosslinking.","authors":"Tanner J Ferguson, David Durgan, Travis Whitt, Russell J Swan","doi":"10.1007/s40123-025-01118-x","DOIUrl":"10.1007/s40123-025-01118-x","url":null,"abstract":"<p><strong>Introduction: </strong>To evaluate the safety and effectiveness of a varenicline solution nasal spray 0.03 mg (VNS) in reducing signs and symptoms of dry eye disease following corneal collagen cross-linking (CXL).</p><p><strong>Methods: </strong>Subjects undergoing CXL were randomized to VNS (study) or vehicle (control) twice daily and initiated treatment with VNS 28 days prior to the procedure with continued use for 28 days following the procedure. After starting treatment, subjects were seen on the day of surgery and postoperatively at days 2, 3, 4, 7 and 28. The primary outcome measure was the change in the National Eye Institute Visual Function Questionnaire (NEI-VFQ)-25, a dry eye questionnaire, from baseline to day 28. The second primary outcome measure was the mean area change of corneal epithelial healing following the CXL procedure. The secondary outcome measures for this study were the eye dryness score (EDS), degree of fluorescein staining and supplemental artificial tear usage.</p><p><strong>Results: </strong>Twelve subjects were enrolled in the study group and eight in the control group. At day 28, the NEI-VFQ-25 questionnaire demonstrated an improvement from baseline in the study group and a reduction in the control group, but the between-group comparison was not statistically significant (p > 0.05). There was a directional trend toward faster mean change of epithelial healing in the study group, but the difference was not statistically significant at any time point. There were four total adverse events, all of which were mild in nature and resolved without sequelae.</p><p><strong>Conclusions: </strong>VNS is an attractive treatment option for patients following CXL. Patients hoping to avoid punctal occlusion or additional use of topical medications following a procedure such as CXL may be well suited for a neurostimulator treatment option like VNS that spares the ocular surface.</p><p><strong>Trial registration: </strong>Registered with clinicaltrials.gov (NCT05136924).</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"959-968"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006605/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antonio Tan-Torres, Pradeep A Praveen, Divleen Jeji, Arthur Brant, Xiang Yin, Lu Yang, Preeti Singh, Tayyeba Ali, Ilana Traynis, Dushyantsinh Jadeja, Rajroshan Sawhney, Dale R Webster, Naama Hammel, Yun Liu, Kasumi Widner, Sunny Virmani, Pradeep Venkatesh, Jonathan Krause, Nikhil Tandon
{"title":"Validation of a Deep Learning Model for Diabetic Retinopathy on Patients with Young-Onset Diabetes.","authors":"Antonio Tan-Torres, Pradeep A Praveen, Divleen Jeji, Arthur Brant, Xiang Yin, Lu Yang, Preeti Singh, Tayyeba Ali, Ilana Traynis, Dushyantsinh Jadeja, Rajroshan Sawhney, Dale R Webster, Naama Hammel, Yun Liu, Kasumi Widner, Sunny Virmani, Pradeep Venkatesh, Jonathan Krause, Nikhil Tandon","doi":"10.1007/s40123-025-01116-z","DOIUrl":"10.1007/s40123-025-01116-z","url":null,"abstract":"<p><strong>Introduction: </strong>While many deep learning systems (DLSs) for diabetic retinopathy (DR) have been developed and validated on cohorts with an average age of 50s or older, fewer studies have examined younger individuals. This study aimed to understand DLS performance for younger individuals, who tend to display anatomic differences, such as prominent retinal sheen. This sheen can be mistaken for exudates or cotton wool spots, and potentially confound DLSs.</p><p><strong>Methods: </strong>This was a prospective cross-sectional cohort study in a \"Diabetes of young\" clinic in India, enrolling 321 individuals between ages 18 and 45 (98.8% with type 1 diabetes). Participants had fundus photographs taken and the photos were adjudicated by experienced graders to obtain reference DR grades. We defined a younger cohort (age 18-25) and an older cohort (age 26-45) and examined differences in DLS performance between the two cohorts. The main outcome measures were sensitivity and specificity for DR.</p><p><strong>Results: </strong>Eye-level sensitivity for moderate-or-worse DR was 97.6% [95% confidence interval (CI) 91.2, 98.2] for the younger cohort and 94.0% [88.8, 98.1] for the older cohort (p = 0.418 for difference). The specificity for moderate-or-worse DR significantly differed between the younger and older cohorts, 97.9% [95.9, 99.3] and 92.1% [87.6, 96.0], respectively (p = 0.008). Similar trends were observed for diabetic macular edema (DME); sensitivity was 79.0% [57.9, 93.6] for the younger cohort and 77.5% [60.8, 90.6] for the older cohort (p = 0.893), whereas specificity was 97.0% [94.5, 99.0] and 92.0% [88.2, 95.5] (p = 0.018). Retinal sheen presence (94% of images) was associated with DME presence (p < 0.0001). Image review suggested that sheen presence confounded reference DME status, increasing noise in the labels and depressing measured sensitivity. The gradability rate for both DR and DME was near-perfect (99% for both).</p><p><strong>Conclusion: </strong>DLS-based DR screening performed well in younger individuals aged 18-25, with comparable sensitivity and higher specificity compared to individuals aged 26-45. Sheen presence in this cohort made identification of DME difficult for graders and depressed measured DLS sensitivity; additional studies incorporating optical coherence tomography may improve accuracy of measuring DLS DME sensitivity.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"1147-1155"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jonathan Hall, Marta Corton, Fabian Norbert Fries, Jessica Obst, Clara Grünauer-Kloevekorn, Berthold Seitz, Maria Della Volpe Waizel, Eszter Jávorszky, Kálmán Tory, Erika Maka, Maryam Amini, Shweta Suiwal, Tanja Stachon, Nóra Szentmáry
{"title":"Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.","authors":"Jonathan Hall, Marta Corton, Fabian Norbert Fries, Jessica Obst, Clara Grünauer-Kloevekorn, Berthold Seitz, Maria Della Volpe Waizel, Eszter Jávorszky, Kálmán Tory, Erika Maka, Maryam Amini, Shweta Suiwal, Tanja Stachon, Nóra Szentmáry","doi":"10.1007/s40123-025-01122-1","DOIUrl":"10.1007/s40123-025-01122-1","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital aniridia (CA) is a severe and complex disorder involving the entire eye, primarily characterized by iris anomalies alongside other clinical features that pose significant risks to vision. This study seeks to offer a comprehensive overview of CA by detailing its clinical presentations, genetic underpinnings, associated phenotypes, and differential diagnoses. Additionally, it proposes a diagnostic framework to distinguish CA from other conditions that present with similar iris abnormalities.</p><p><strong>Methods: </strong>We conducted a comprehensive literature review to compile and analyze clinical and genetic data related to CA and its differential diagnoses. We included all studies describing the clinical characteristics, pathogenic variants, and associated syndromes of congenital aniridia.</p><p><strong>Results: </strong>CA presents a wide range of ocular symptoms. Pathogenic variants in the PAX6 gene are the primary genetic cause of CA, though variations in other genes, including FOXC1, PITX2, CYP1B1, FOXD3, PITX3, CPAMD8, ITPR1, TENM3, TRIM44, COL4A1, CRYAA, and PXDN may also be implicated. The differential diagnosis of CA requires careful consideration of conditions with overlapping symptoms, such as WAGR syndrome (which involves deletions affecting the PAX6 and WT1 genes on chromosome 11p13, and potentially BDNF on 11p14.1), Axenfeld-Rieger syndrome (FOXC1/PITX2), ring-chromosome 6 syndrome (which involves FOXC1 microdeletion), COL4A1-related anterior segment dysgenesis, Gillespie syndrome (ITPR1 gene) or Peters anomaly. Accurate diagnosis can be achieved by evaluating specific clinical features-including iris anomalies, aniridia-associated keratopathy, cataracts, glaucoma, foveal hypoplasia, nystagmus, and optic nerve head abnormalities-supplemented by genetic testing.</p><p><strong>Conclusions: </strong>Understanding the diverse clinical presentations and genetic basis of diseases associated with iris abnormalities is essential for accurate diagnosis and effective management. Integrating genetic diagnostics into the evaluation process enables the development of tailored treatment strategies, which can significantly improve patient outcomes.</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"835-856"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143731004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Barbara Della Franca, Rémi Yaïci, Aleksandra Matuszewska-Iwanicka, Simona Nandrean, Ralf Gutzmer, Hans-Joachim Hettlich
{"title":"Bilateral In Vivo Confocal Microscopic Changes of the Corneal Subbasal Nerve Plexus in Patients with Acute Herpes Zoster Ophthalmicus.","authors":"Barbara Della Franca, Rémi Yaïci, Aleksandra Matuszewska-Iwanicka, Simona Nandrean, Ralf Gutzmer, Hans-Joachim Hettlich","doi":"10.1007/s40123-025-01112-3","DOIUrl":"10.1007/s40123-025-01112-3","url":null,"abstract":"<p><strong>Introduction: </strong>Unilateral herpes zoster ophthalmicus (HZO) results in bilateral corneal denervation in patients with corneal involvement, which correlates with corneal sensation loss. The study aimed to analyze bilateral corneal nerve changes in patients with acute unilateral HZO and no keratitis compared with healthy controls.</p><p><strong>Methods: </strong>This was a prospective, single-center study. Using in vivo confocal microscopy (IVCM) and an automatized single image analysis software (ACCmetrics, University of Manchester, UK), seven corneal nerve parameters, including corneal nerve fiber density (CNFD; no/mm<sup>2</sup>), corneal nerve branch density (CNBD; no/mm<sup>2</sup>), corneal nerve fiber length (CNFL; mm/mm<sup>2</sup>), corneal nerve total branch density (CTBD; no/mm<sup>2</sup>), corneal nerve fiber area (CNFA; mm<sup>2</sup>/mm<sup>2</sup>), corneal nerve fiber width (CNFW; mm/mm<sup>2</sup>), and corneal nerve fiber fractal dimension (CFracDim) were analyzed. Additionally, central corneal sensitivity was measured.</p><p><strong>Results: </strong>Forty-six patients with HZO and 49 controls were recruited and compared. In the HZO group, ipsilateral and contralateral eyes presented a significant decrease (p < 0.001) in all seven IVCM parameters compared with controls: CNFD (13.25 ± 5.23 and 15.24 ± 4.70 vs. 23.54 ± 6.54), CNBD (14.67 ± 9.03 and 16.59 ± 7.98 vs. 31.72 ± 17.89), CNFL (8.42 ± 2.83 and 9.06 ± 2.69 vs. 13.08 ± 4.02), CTBD (27.11 ± 13.71 and 23.58 ± 12.69 vs. 46.88 ± 24.90), CNFA (0.0044 ± 0.002 and 0.0042 ± 0.001 vs. 0.0056 ± 0.002), CNFW (0.0213 ± 0.003 and 0.0221 ± 0.003 vs. 0.0222 ± 0.001) and CFracDim (1.39 ± 0.06 and 1.38 ± 0.06 vs. 1.45 ± 0.05). In the ipsilateral HZO eye group, a positive Hutchinson sign or a reduced corneal sensitivity was associated with more extensive corneal denervation. A significant negative correlation was found between patient age and CNFD (rho = - 0.312, p < 0.002), CNFL (rho = - 0.295, p = 0.004), and CFracDim (rho = - 0.284, p = 0.005).</p><p><strong>Conclusions: </strong>Unilateral HZO in patients without apparent keratitis leads to bilateral subbasal nerve plexus alteration in the early days after disease onset, especially in those with a positive Hutchinson sign. Early follow-up of patients with HZO and bilateral application of preservative-free artificial tears during the initial months of symptom onset may help reduce the risk of developing neurotrophic keratopathy (NTK).</p>","PeriodicalId":19623,"journal":{"name":"Ophthalmology and Therapy","volume":" ","pages":"941-957"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}