Ceska a Slovenska Oftalmologie最新文献

{"title":"Possibilities of Using Corneal Stromal Lenticules Obtained During ReLEx SMILE Refractive Surgery for Transplantation Purposes. A Review.","authors":"Yun Min Klimešová, Magdalena Netuková, Alina-Dana Baxant, Martina Poláchová, Pavel Studený","doi":"10.31348/2025/7","DOIUrl":"https://doi.org/10.31348/2025/7","url":null,"abstract":"<p><p>A corneal stromal lenticule (CSL) is a part of the corneal stroma that forms as a waste product during the refractive surgery ReLEx SMILE (Small Incision Lenticule Extraction) and is no longer used. With the increasing number of ReLEx SMILE procedures and the number of potentially available CSLs, two main aspects of their usage are currently being investigated. The first aspect includes the biological properties of CSLs and their proper preservation with respect to long-term storage. The second aspect is related to the potential clinical use of CSLs. As a high-quality biomaterial, CSLs have substantial potential to be used for alternative solutions in the treatment of specific eye diseases. In a number of studies it has been shown that RSL transplantation could be a safe and effective method that does not cause any serious complications, for example in terms of immune reaction. The aim of this article is to present an overview of the possibilities for using CSLs for transplantation purposes, and at the same time to discuss our methodology for processing and preserving CSLs with the protocol used at the Eye Tissue Bank of the Královské Vinohrady University Hospital.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"81 1","pages":"3-6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical History Method versus Corneal Tomographers in Estimating Corneal Power after Photorefractive Surgery","authors":"Alejandro Tello, Virgilio Galvis, Samuel Arba-Mosquera, Ruby Morales, Valeria Otoya, Sylvia J Villamizar, Sergio E Serrano","doi":"10.31348/2024/23","DOIUrl":"10.31348/2024/23","url":null,"abstract":"<p><strong>Aims: </strong>To investigate the concordance between the corneal power determined by various approaches with two tomographers (MS-39® and Galilei G6®) and the clinical history method (CHM) in patients undergoing photorefractive surgery with excimer laser for myopic errors.</p><p><strong>Material and methods: </strong>Prospective cohort study. Patients undergoing keratorefractive surgery, and having pre- and postoperative keratometries, and tomographies, were included.</p><p><strong>Results: </strong>In 90 eyes, the differences in the power estimated by the CHM and the one determined by four approaches with the corneal tomographers, which included measurements of the posterior cornea, did not show statistically significant differences in their averages. However, the 95% limits of agreement were very wide. After obtaining regression formulas to adjust the values of these four variables, the results of the agreement analysis were similar.</p><p><strong>Conclusion: </strong>Although certain values either directly determined or derived from measurements with the Galilei® and MS-39®corneal tomographers, approximated the estimated value of postoperative corneal power according to the CHM, due to the amplitude of their limits of agreement, these calculations must be taken with care, because they may not be accurate in a given eye.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"80 Ahead of print","pages":"69-80"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rhegmatogenous Retinal Detachment in Childhood.","authors":"Oldřich Chrapek, Markéta Šuráňová, Veronika Chovancová, Kristína Sičová, Michal Březík, Daniela Vysloužilová, Veronika Matušková","doi":"10.31348/2025/14","DOIUrl":"https://doi.org/10.31348/2025/14","url":null,"abstract":"<p><strong>Aims: </strong> To retrospectively evaluate the anatomical and functional success of surgical treatment for rhegmatogenous retinal detachment (RRD) in pediatric patients aged 18 years and younger.</p><p><strong>Material and methods: </strong> The study includes 14 eyes of 14 patients, 9 (64%) of whom were males, with an average age of 12 years. All patients underwent surgery for rhegmatogenous retinal detachment (RRD) performed by a single surgeon at the Department of Ophthalmology, University Hospital Brno, and Masaryk University, from July 1, 2019, to June 30, 2024. The surgical techniques used included cryosurgery and 25G+ pars plana vitrectomy (PPV). In 3 patients a 25G+ PPV was combined with pre-equatorial scleral buckling. A history of blunt ocular trauma was permissible. The cause of RRD was retinal tear(s), regardless of their number or location. The transparency of the anterior segment enabled reliable visualization of the posterior segment. Preoperative proliferative vitreoretinopathy (PVR) grades A-D2 were acceptable. Patients with a history of penetrating ocular trauma were excluded. Anatomical success was defined as complete retinal reattachment. Each patient's final visual acuity (VA) was assessed using a Snellen chart. Numerical outcomes were expressed as arithmetic means and percentages. Since no comparative analysis was conducted between different groups, statistical tests were not required.</p><p><strong>Results: </strong> In 13 patients (93%), complete retinal reattachment was achieved. In 1 patient (7%), the retina became detached again after silicone oil removal, with rapid progression of PVR, leading to anatomical treatment failure due to inoperability. A total of 11 patients (78%) achieved visual acuity (VA) of ≥ 4/40.</p><p><strong>Conclusion: </strong> We consider cryosurgical techniques utilizing episclerally fixed encircling bands and buckles, 25G+ PPV, and potentially a combination thereof as appropriate methods for managing RRD in children.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"81 Ahead of Print","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intravitreal Dexamethasone Implant in the Treatment of Diabetic Macular Edema Focusing on the Role of OCT Biomarkers","authors":"Tomáš Mudroch, Michal Hrevuš, Marta Karhanová, Jiří Řehák, Klára Marešová","doi":"10.31348/2024/29","DOIUrl":"10.31348/2024/29","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to evaluate the outcomes of Ozurdex® (DEX) implant in patients with diabetic macular edema (DME) in real-world clinical practice, and to determine the correlation between known OCT biomarkers and the effect of treatment.</p><p><strong>Material and methods: </strong>This retrospective study included 42 eyes of 33 patients (16 women, 17 men) treated with DEX at the Department of Ophthalmology, Faculty of Medicine and Dentistry of Palacký University and University Hospital Olomouc for DME indication between 2020 and 2023. Follow-up examinations were conducted at 1, 3, and 6 months after the first DEX application. The main assessed parameters were: best-corrected visual acuity (BCVA), intraocular pressure (IOP), central retinal thickness (CRT), OCT biomarkers. The results were subsequently statistically evaluated.</p><p><strong>Results: </strong>At the first follow-up after DEX application, there was an average decrease in CRT of 186 ±146µm and a gain of 3 ±7 letters. Positive morphological and functional responses were observed in 39 eyes (92.9%) and 23 eyes (54.8%) respectively. The disorganization of retinal inner layers (DRIL) biomarker was initially present in 41 eyes (97.6%), with reduction or disappearance observed in 13 eyes (31%) post-application. Eyes with ellipsoid zone disruption (EZ disruption) had an average initial BCVA of 49.6 letters, compared to 57.8 letters in the group without this biomarker. The mean gain in BCVA was +8.7 letters in treatment-naive eyes and +2.1 letters in previously treated eyes. Chronic DME was less frequent in treatment-naive (n = 1, 14.3%) compared to previously treated eyes (n = 28, 84.8%). All these results were statistically significant (p &lt; 0.05). An increase in IOP post-DEX application occurred in 9 patients (21.4%).</p><p><strong>Conclusion: </strong>Our results confirm DEX as a safe and effective treatment option for DME. Treatment-naive patients achieved better functional outcomes. We confirmed ellipsoid zone disruption (EZ disruption) as a negative biomarker. Additionally, we demonstrated the capacity of DEX to reduce disorganization of the retinal inner layers (DRIL).</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"80 Ahead of print","pages":"16-23"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Influence of Eye Rubbing and Genetic Predisposition on Keratoconus in Bucaramanga (Colombia): A Case-control Study.","authors":"Laura María Duarte-Bueno, Alejandro Tello, Luis Alfonso Diaz-Martínez, Sergio Escobar, Virgilio Galvis","doi":"10.31348/2025/2","DOIUrl":"10.31348/2025/2","url":null,"abstract":"<p><strong>Aim: </strong>To determine risk factors associated with keratoconus in Bucaramanga, Colombia.</p><p><strong>Material and methods: </strong>A paired case-control study was conducted at Bucaramanga, Colombia, between November 2022 and December 2023. The controls were age- and sex-matched. Patients answered a questionnaire designed for this study regarding their family history of keratoconus, eye rubbing, atopy, sun exposure, and sleeping habits. Information from medical records was also obtained. Univariate and multivariate conditional analyses were used to test the significance of associations.</p><p><strong>Results: </strong>One hundred fifty-six patients with a diagnosis of keratoconus and 312 controls were included. Univariate analyses revealed significant differences between cases and controls in the following factors: very frequent eye rubbing (OR = 20.9, 95% CI 6.2-70.1), a positive family history of keratoconus (OR = 13.0, 95% CI 5.5-30.8), a personal history of atopy (OR = 2.2), and nocturnal eye compression (OR = 1.7, 95% CI 1.0-2.7). Multivariate analysis showed a statistical significance for eye rubbing (OR = 6.9, 95% CI 3.8-12.5), and family history of keratoconus (OR = 10.3, 95% CI 2.3-44.9). There was a significant mild interaction between both, since when the two coincided the OR increased up to 74.1 times.</p><p><strong>Conclusion: </strong>Eye rubbing and family history of keratoconus were the most important risk factors for keratoconus in our population. Although it is impossible to establish causal relationships, our results suggest that controlling eye rubbing could be a potentially useful preventive measure, particularly in individuals with a family history of keratoconus. Other factors, such as sun exposure, sleeping position, and atopy, may play a role in the pathophysiology of the disease.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"81 Ahead of Print","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Relationship Between Retinal Nerve Fiber Thickness and Retinal Functional Sensitivity During Oct and Static Perimeter Examinations.","authors":"Petr Veselý, Pavel Beneš, Jana Sokolová Šidlová, Petra Záděrová, Hana Došková","doi":"10.31348/2024/43","DOIUrl":"10.31348/2024/43","url":null,"abstract":"<p><strong>Aims: </strong>To demonstrate the relationship of dependency between the thickness of the retinal nerve fiber layer and the functional sensitivity of the retina in healthy young individuals. We also secondarily investigated the relationship between refractive error and mean retinal thickness in the macula.</p><p><strong>Material and methods: </strong>The basic cohort contained 30 subjects with an average age of 23.4 ±4.2 years. These were young, generally healthy individuals without serious ocular pathologies. The average value of spherical equivalent in both eyes of all individuals was -1.2 ±2.5 D. We measured the thickness of the retinal nerve fiber layer (RNFL) in the papilla area and the average thickness of the retina in the area of the macula using the device OPKO Spectral OCT SLO Combination Imaging System (Opko Health, USA). We performed a functional examination of the retina within an area up to 30° using a perimeter with a stimulus with a Frequency Doubling Technology (FDT) from the company Humphrey (Carl Ziess Meditec, Inc., Dublin, CA). As a significant variable for comparison, we determined the mean value of retinal sensitivity deviation (MD).</p><p><strong>Results: </strong>In our study, we did not demonstrate a statistically significant relationship between the average thickness of the retinal nerve fiber layer (RNFL) and the average value of retinal functional sensitivity (r = 0.18, p = 0.34) in either right eyes or the left eyes of the examined subjects (r = 0.20, p = 0.29). We also did not find a statistically significant relationship secondarily between the variable called the spherical equivalent of refractive error (SE) and the average retinal thickness in the macula in either the right eyes (r = 0.34, p = 0.06) or the left eyes (r = 0.18, p = 0.32).</p><p><strong>Conclusion: </strong>When comparing the average thickness of the nerve fibers in the papilla with the help of OCT examination and the functional sensitivity of the retina measured on an FDT perimeter, we did not find a statistically significant dependence in the group of right eyes or in the group of left eyes. We also achieved a similar result when examining the interdependence of the variables of spherical equivalent of refractive error of the eye and the average thickness of the retina in the macula.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"80 Ahead of print","pages":"91-95"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytomegalovirus Anterior Uveitis.","authors":"Veronika Kotingová, Marek Fichtl, Michaela Brichová, Petra Svozílková, Aneta Klímová, Lucie Rezková, Eva Škrlová, Jarmila Heissigerová","doi":"10.31348/2024/40","DOIUrl":"10.31348/2024/40","url":null,"abstract":"<p><strong>Aim: </strong>The aim of the article is to summarize observations on cytomegalovirus (CMV) anterior uveitis, and in short case reports present cases of patients treated at our Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague.</p><p><strong>Material and methods: </strong>Retrospective analysis of patients at the Centre for diagnosis and treatment of uveitis from 2003 to 2024. Presentation of our experiences with CMV anterior uveitis confirmed by polymerase chain reaction (PCR) in aqueous humor in case reports.</p><p><strong>Results: </strong>From a cohort of 3844 patients with uveitis, 3 patients were diagnosed with CMV anterior uveitis, confirmed by PCR in the aqueous humor. The clinical presentation was as acute recurrent hypertensive anterior uveitis in all patients, with a switch to chronic form with elevated intraocular pressure (IOP). Despite local anti-inflammatory and antiglaucomatous therapy, there was high recurrence of uveitis with decompensation of IOP when the medication was reduced. Patients underwent antiglaucoma surgery because of persistent high IOP despite maximal local antiglaucomatous therapy. An anterior chamber tap was taken for PCR analysis, with a CMV-positive result. After the initiation of antiviral therapy with local ganciclovir, patients manifested compensated IOP and a pronounced reduction of recurrences of uveitis and progression of glaucoma.</p><p><strong>Conclusions: </strong>CMV anterior uveitis is a rare pathology in our geographic region, but it is important to consider this etiology in cases of recurrent anterior hypertensive uveitis with a low response to local anti-inflammatory medication. Timely verification of the etiological agent with prompt diagnosis and treatment is essential in order to achieve a favorable prognosis. Long-term, low maintenance doses of antiviral therapy with local ganciclovir for several months reduce relapses of uveitis and lead to compensation of IOP.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"80 Ahead of print","pages":"61-67"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Internal Limiting Membrane Dehiscence and Rouleaux Formation in a Case with Branch Retinal Vein Occlusion and Macular Edema Treated with a Single Dexamethasone Implant Administration. A Case Report.","authors":"Seher Köksaldı, Nargiz Ahmadova, Remzi Avcı, Osman Ali Saatci","doi":"10.31348/2025/5","DOIUrl":"10.31348/2025/5","url":null,"abstract":"<p><p>A 70-year-old woman was examined with a 10-day history of photopsia and floaters in her left eye. Her best-corrected visual acuity was 20/25 in both eyes, with a normal intraocular pressure and some nuclear sclerosis. Spectral-domain optical coherence tomography revealed a separated posterior vitreous, with a rolled internal limiting membrane flap and inner retinal dimples in the left eye. Optical coherence tomography angiography demonstrated reduced vessel density in both the superficial and deep capillary plexuses of the left fundus. Sixteen months earlier, she had received a single intravitreal Dexamethasone implant injection, due to inferotemporal branch retinal vein occlusion-related macular edema. A diagnosis of internal limiting membrane tear following an uneventful posterior vitreous detachment was reached and no treatment was recommended.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"81 Ahead of Print","pages":"98-102"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Retinal Tear Location and Internal Tamponade on The Success of Pars Plana Vitrectomy in Patients with Uncomplicated Retinal Detachment.","authors":"Zbyněk Straňák, Miroslav Veith, Jan Dobaka, Martin Penčák, Karel Helman, Pavel Studený","doi":"10.31348/2024/41","DOIUrl":"10.31348/2024/41","url":null,"abstract":"<p><strong>Aim: </strong>Retinal detachment is an acute sight-threatening condition that requires immediate surgical intervention. The aim of this study is to compare the outcomes of pars plana vitrectomy (PPV) for uncomplicated rhegmatogenous retinal detachment (RRD) between the different types of gases used, the position, and the number of tears.</p><p><strong>Material and methods: </strong>This is a retrospective non-randomized comparative study of patients with uncomplicated RRD treated at the Department of Ophthalmology from March 2018 to April 2021 using PPV. A total of 494 evaluated eyes were included in the study. The anatomical success of the surgery was monitored with regard to the extent of retinal detachment, the number and position of tears, and the tamponade used.</p><p><strong>Results: </strong>The success rate of retinal reattachment with a single operation was 90.7% (448 eyes), and the final anatomical success rate was 100%. A very weak paired relationship was found between the success of the surgery for tears in the 4-8 hours region and the 9-3 hours region (89.1% vs. 92%). Similarly, no significant differences were observed between procedures using SF6 and C3F8 gases for RRD with a tear in the 4-8 hours region (success rate 93.4% for SF6 vs. 89.1% for C3F8). The average postoperative improvement of best corrected visual acuity was 29.6 ETDRS letters, and a gain of 15 letters was recorded in 55.1% (272 eyes). Overall, the complication rate was very low.</p><p><strong>Conclusion: </strong>PPV is a safe and effective method for treating RRD. Extensive experience with this method allows the use of short-acting tamponades in selected patients.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"80 Ahead of print","pages":"83-89"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondrial Retinopathy Due to MT-TL1 Mutation: The Role of Heteroplasmy. A Case Report.","authors":"Mauricio Arango, Sarita Restrepo, Antonia Maria Orrego, Sara Turizo, Karol Quintero-Lizcano","doi":"10.31348/2025/8","DOIUrl":"https://doi.org/10.31348/2025/8","url":null,"abstract":"<p><strong>Objective: </strong>To report a case of mitochondrial retinopathy, highlighting its clinical and imaging findings, the importance of genetic confirmation, and the possible implications of heteroplasmy in this disease.</p><p><strong>Material and methods: </strong>Case report of a mitochondrial retinopathy secondary to m.3243A&gt;G mutation in the MT-TL1 gene.</p><p><strong>Results: </strong>A 32-year-old woman presented with bilateral vision loss, photophobia, and sensorineural hearing loss for more than 3 years. Best corrected visual acuity (BCVA) was 20/60 in the right eye (OD) and 20/25 in the left eye (OS). Fundus examination revealed multiple macular subretinal yellow-white deposits and central chorioretinal atrophy, without edema, hemorrhage, or subretinal fluid in the RE, and juxtafoveal atrophy with retinal pigment epithelium (RPE) metaplasia in the OS. Multimodal imaging raised suspicion of retinal dystrophy, and genetic testing confirmed a mitochondrial retinopathy secondary to the m.3243A&gt;G mutation in the MT-TL1 gene.</p><p><strong>Conclusions: </strong>Bilateral and symmetric RPE atrophic changes in young individuals, especially when associated with systemic symptoms, should prompt a comprehensive evaluation, including multimodal imaging and genetic testing. Identifying causative mutations and understanding the dynamics of mitochondrial DNA in the pathogenesis of these diseases is crucial for improving diagnosis and suggesting potential therapeutic strategies, including gene therapy.</p>","PeriodicalId":39839,"journal":{"name":"Ceska a Slovenska Oftalmologie","volume":"81 Ahead of Print","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}