@article{MTMT:34780867, title = {Arteria centralis retinae elzáródás thrombolysiskezelése és multidiszciplináris ellátása a hagyományos szemészeti kezelési formákkal összehasonlítva}, url = {https://m2.mtmt.hu/api/publication/34780867}, author = {Sisa-Vajda, Szilvia and Gunda, Bence and Knézy, Krisztina and Barsi, Péter and Varga, Csaba and Maurovich-Horvat, Pál and Bereczki, Dániel and Nagy, Zoltán Zsolt}, doi = {10.18071/isz.77.0089}, journal-iso = {IDEGGYOGY SZEMLE}, journal = {IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE}, volume = {77}, unique-id = {34780867}, issn = {0019-1442}, abstract = {Háttér és cél – Az arteria centralis retinae okklúzió (ACRO) eddigi konzervatív terápiái limitált hatékonyságúak, szemészeti osztályokon történtek, ahogyan az egységes protokoll nélküli etiológiai vizsgálatok is. Pedig az ACRO a központi idegrendszeri ischaemiás stroke analógiájának tekinthető, így a szisztémás thrombolysis és a multidiszciplináris ellátás hasonlóan hatékony lehet. Emiatt 2022 májusa óta a Semmelweis Egyetemen klinikai vizsgálat keretében a 4,5 órán belül diagnosztizált ACRO thrombolysiskezelését és etiológiai vizsgálatait végezzük egységes protokoll alapján. Vizsgálatunk célja a szemészeti, nem protokoll szerinti, és a multidiszciplináris, protokoll szerinti ACRO-ellátás összehasonlítása. Módszerek – Áttekintettük a 2013 és 2022 között a Szemészeti Klinikán ACRO-val konzervatívan és 6 órán belül paracentesissel is kezelt betegek látásélesség-változását, fellelhető neurológiai és cardiovascularis vizsgálatainak eredményeit, valamint a thrombolysisprojekt keretében ellátott betegeket. Eredmények – A 78 nem protokoll szerinti ellátásban részesülő betegnél látásjavulást természetes lefolyás esetén 37%, konzervatív kezelés mellett 47%, paracentesissel 47%-nál láttunk. Szignifikáns carotisstenosis négy, carotisdissectio egy, cardialis emboliaforrás hat, óriássejtes arteritis egy esetben igazolódott; endarterectomián két beteg esett át. A protokoll szerinti klinikai vizsgálatba négy, időablakon belüli betegből három egyezett bele, náluk thrombolysis történt. Két betegnek javult a visusa, két betegnél szignifikáns carotisstenosis igazolódott, és endarterectomián estek át, egy betegnél novum pitvarfibrilláció miatt antikoagulálást kezdtünk. Következtetés – A terápiás időablakon belül jelentkező ACRO-betegek ritkák, a thrombolysis hatásosságának megítéléséhez nagyobb betegszám szükséges. Az egységes vizsgálati protokoll azonban egyértelműen elősegíti az etiológiai diagnózist, így a további, akár súlyosabb formában jelentkező thromboemboliás szövődmények megelőzését.}, year = {2024}, eissn = {2498-6208}, pages = {89-96}, orcid-numbers = {Gunda, Bence/0000-0003-2481-321X; Barsi, Péter/0000-0002-3574-9973; Maurovich-Horvat, Pál/0000-0003-0885-736X; Bereczki, Dániel/0000-0002-8374-0500; Nagy, Zoltán Zsolt/0000-0002-7330-0464} } @article{MTMT:34755441, title = {Clinical Characteristics and Treatment of Ophthalmic Sequelae of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis at a Tertiary Eyecare Centre in Hungary}, url = {https://m2.mtmt.hu/api/publication/34755441}, author = {Tóth, Gábor and Lukács, Andrea and Stachon, Tanja and Schirra, Frank and Sándor, Gábor László and Nagy, Zoltán Zsolt and Szentmáry, Nóra}, doi = {10.1007/s40123-024-00924-z}, journal-iso = {OPHTHALMOL THERAP}, journal = {OPHTHALMOLOGY AND THERAPY}, volume = {13}, unique-id = {34755441}, issn = {2193-8245}, abstract = {This study analysed the causative factors and clinical characteristics of acute and chronic ocular sequelae of Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) treated at a large third-referral centre in a developed country (Hungary) over a 15-year period.This was a retrospective review of patients with acute and/or chronic SJS/TEN who were managed between 2006 and 2020 at the Department of Ophthalmology of Semmelweis University in Budapest, Hungary. For each subject, clinical data, including patient demographics, clinical history, causative agents of SJS/TEN, and conservative and surgical treatment details, were reviewed.Ninety-six eyes of 48 patients were included (28 female; 58.3%); the age at disease onset was 32.1 ± 22.4 years. The most common causative factors were medicines (n = 36; 75.0%). Among these drugs, 29.2% were nonsteroidal anti-inflammatory drugs (NSAIDs) (n = 14), 20.8% were antibiotics (n = 10) and 14.6% were antiepileptic drugs (n = 7). In patients with chronic SJS/TEN, the most commonly found ocular sequelae were conjunctival hyperaemia in 45 (56.3%) eyes, symblepharon in 38 (47.5%) eyes, trichiasis/distichiasis in 37 (46.3%) eyes, corneal neovascularization in 31 (38.8%) eyes and corneal scarring in 29 (36.3%) eyes. In patients with chronic SJS/TEN, the most frequently used topical conservative treatment included antibiotics in 53 (66.3%) eyes, preservative-free artificial tears in 50 (62.5%) eyes and topical corticosteroids in 42 (52.5%) eyes of 40 patients. The most frequently performed ocular surgeries for managing chronic ocular sequelae in patients with SJS/TEN were epilation for trichiasis (n = 27; 33.8%), cataract surgery (n = 14; 17.5%), entropion surgery (n = 12; 15.0%), penetrating keratoplasty (PK) (n = 11; 13.8%) and amniotic membrane transplantation (n = 4; 5.0%).Our results suggest that NSAIDs, antibiotics and antiepileptic drugs are the most common causative factors for SJS/TEN in Hungary. Like in other countries, in Hungary, the ocular management of patients with acute and chronic SJS/TEN is heterogeneous, and most cases do not follow modern therapeutic guidelines.}, keywords = {toxic epidermal necrolysis; Aetiology; STEVENS-JOHNSON SYNDROME; Ocular surface}, year = {2024}, eissn = {2193-6258}, pages = {1343-1356}, orcid-numbers = {Tóth, Gábor/0000-0002-9176-9442; Sándor, Gábor László/0000-0002-2484-9848; Nagy, Zoltán Zsolt/0000-0002-7330-0464; Szentmáry, Nóra/0000-0001-8019-1481} } @article{MTMT:34729033, title = {Astigmatism and maternal myopia as important factors affecting success rate of DIMS lens treatment}, url = {https://m2.mtmt.hu/api/publication/34729033}, author = {Domsa, Patricia and Bankó, Éva Mária and Körtvélyes, Judit and Meigen, Christof and Széchey, Rita and Lantos, Krisztina and Nagy, Zoltán Zsolt and Csutak, Adrienne}, doi = {10.1136/bmjophth-2023-001499}, journal-iso = {BMJ OPEN OPHTHALM}, journal = {BMJ OPEN OPHTHALMOLOGY}, volume = {9}, unique-id = {34729033}, year = {2024}, eissn = {2397-3269}, orcid-numbers = {Bankó, Éva Mária/0009-0001-5354-5077; Körtvélyes, Judit/0000-0002-3723-9037; Nagy, Zoltán Zsolt/0000-0002-7330-0464} } @article{MTMT:34724035, title = {Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy.}, url = {https://m2.mtmt.hu/api/publication/34724035}, author = {Csorba, Anita and Kormányos, Kitti and Csidey, Mária and Náray, Annamária and Kovács, Klaudia and Németh, Orsolya and Knézy, Krisztina and Bausz, Mária and Szigeti, Andrea and Szabó, Dorottya and Corton, Marta and Tory, Kálmán and Nagy, Zoltán Zsolt and Langenbucher, Achim and Maka, Erika and Szentmáry, Nóra}, doi = {10.1080/02713683.2024.2320779}, journal-iso = {CURR EYE RES}, journal = {CURRENT EYE RESEARCH}, volume = {In press}, unique-id = {34724035}, issn = {0271-3683}, abstract = {During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to centripetal spreading vascularization, conjunctivalization, and thickening of the cornea. Our aim was to examine the subbasal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal laser scanning microscopy CLSM.31 eyes of 18 patients (55.6% males, mean age: 25.22 ± 16.35 years) with congenital aniridia and 46 eyes of 29 healthy subjects (41.4% males, mean age 30 ± 14.82 years) were examined using the Rostock Cornea Module of Heidelberg Retina Tomograph-III. At the subbasal nerve plexus, corneal nerve fiber density (CNFD), corneal nerve fiber length (CNFL), corneal total branch density (CTBD), and corneal nerve fiber width (CNFW) were analyzed using ACCMetrics software. Keratocyte density in the anterior, middle and posterior stroma was assessed manually.The CNFD (2.02 ± 4.08 vs 13.99 ± 6.34/mm2), CNFL (5.78 ± 2.68 vs 10.56 ± 2.82 mm/mm2) and CTBD (15.08 ± 15.62 vs 27.44 ± 15.05/mm2) were significantly lower in congenital aniridia subjects than in controls (p < 0.001 for all). CNFW was significantly higher in aniridia subjects than in controls (0.03 ± 0.004 vs 0.02 ± 0.003 mm/mm2) (p = 0.003). Keratocyte density was significantly lower in all stromal layers of aniridia subjects than in controls (p < 0.001 for all). Stromal alterations included confluent keratocytes, keratocytes with long extensions and hyperreflective dots between keratocytes in aniridia.Decrease in CNFD, CNFL, and CTBD, as well as increase in CNFW well refer to the congenital aniridia-associated neuropathy. The decreased keratocyte density and the stromal alterations may be related to an increased cell death in congenital aniridia, nevertheless, stromal changes in different stages of AAK have to be further analyzed in detail.}, keywords = {Corneal Stroma; subbasal nerve plexus; Aniridia-associated keratopathy; congenital aniridia; in vivo confocal laser scanning microscopy}, year = {2024}, eissn = {1460-2202}, pages = {1-9}, orcid-numbers = {Csorba, Anita/0000-0002-3256-9440; Csidey, Mária/0000-0003-1542-6592; Kovács, Klaudia/0000-0002-1801-2347; Szigeti, Andrea/0000-0002-7420-6867; Tory, Kálmán/0000-0002-0316-6212; Nagy, Zoltán Zsolt/0000-0002-7330-0464; Langenbucher, Achim/0000-0001-9175-6177; Maka, Erika/0000-0002-3631-3506; Szentmáry, Nóra/0000-0001-8019-1481} } @article{MTMT:34694274, title = {Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration}, url = {https://m2.mtmt.hu/api/publication/34694274}, author = {Han, Ji Hoon and Rodenburg, Kim and Hayman, Tamar and Calzetti, Giacomo and Kaminska, Karolina and Quinodoz, Mathieu and Marra, Molly and Wallerich, Sandrine and Allon, Gilad and Nagy, Zoltán Zsolt and Knézy, Krisztina and Li, Yumei and Chen, Rui and Telles Salgueiro Barboni, Mirella and Yang, Paul and Pennesi, Mark E and van den Born, L Ingeborgh and Varsányi, Balázs and Szabó, Viktória and Sharon, Dror and Banin, Eyal and Ben-Yosef, Tamar and Roosing, Susanne and Koenekoop, Robert K and Rivolta, Carlo}, doi = {10.1016/j.gim.2024.101106}, journal-iso = {GENET MED}, journal = {GENETICS IN MEDICINE}, volume = {In press}, unique-id = {34694274}, issn = {1098-3600}, abstract = {Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs.Patients underwent a comprehensive ophthalmological evaluation using standard-of-care tests, such as detailed retinal imaging (macular OCT, short-wavelength fundus autofluorescence) and electrophysiological testing. Exome and genome sequencing, as well as computer-assisted data analysis were used for genotyping and detection of DNA variants. A minigene-driven splicing assay was performed to validate the deleterious effects of one of such variants.We identified 8 unrelated families from Hungary, the United States, Israel, and the Netherlands with members presenting with a form of autosomal recessive and nonsyndromic retinal degeneration, predominantly described as rod-cone dystrophy but also including cases of cone / cone-rod dystrophy. Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later. Myopia greater than 5 diopters was present in 5 of 7 cases with available refractive data, and retinal detachment was reported in 2 cases. All ascertained patients carried biallelic loss-of-function variants in UBAP1L (HGNC: 40028), a gene with unknown function and with homologies to UBAP1, encoding a protein involved in ubiquitin metabolism. One of these pathogenic variants, the intronic NM_001163692.2:c.910-7G>A substitution, was identified in five unrelated families. Minigene-driven splicing assays in HEK293T cells confirmed that this DNA change is responsible for the creation of a new acceptor splice site, resulting in aberrant splicing.We identified UBAP1L as a novel IRD gene. Although its function is currently unknown, UBAP1L is almost exclusively expressed in photoreceptors and the retinal pigment epithelium, hence possibly explaining the link between pathogenic variants in this gene and an ocular phenotype.}, keywords = {retinitis pigmentosa; Rod-cone dystrophy; inherited retinal diseases; Cone-rod dystrophy; UBAP1L; Ubiquitin-Associated Protein 1-Like}, year = {2024}, eissn = {1530-0366}, orcid-numbers = {Nagy, Zoltán Zsolt/0000-0002-7330-0464} } @article{MTMT:34687493, title = {Incidence and Mortality of Uveal Melanoma in Hungary: A Nationwide Study}, url = {https://m2.mtmt.hu/api/publication/34687493}, author = {Tóth, Gábor and Muzsik, Béla and Szajkó, Attila and Kerber, Pál and Dinya, Elek and Csákány, Béla and Nagy, Zoltán Zsolt and Németh, János Tibor}, doi = {10.3390/cancers16050931}, journal-iso = {CANCERS}, journal = {CANCERS}, volume = {16}, unique-id = {34687493}, abstract = {Uveal melanoma (UM) is the most common primary malignant ocular tumour in adults, although its epidemiology in Central and Eastern Europe is unclear. This study aimed to analyse the incidence and all-cause mortality of UM in Hungary. This nationwide, retrospective, longitudinal study used data from the National Health Insurance Fund and included patients aged ≥18 years who were newly diagnosed with UM (ICD-10 C69.3 or C69.4) between 1 January 2012 and 31 December 2021. Age-standardised incidence and all-cause mortality rates were calculated using European Standard Population data from 2013. We identified 88 and 70 new patients with UM in 2012 and 2021, respectively, showing an almost stable trend. Age-standardised incidence rates varied between 6.40 and 10.96/1,000,000 person-years (PYs) during the analysed period. The highest age-standardised incidence was detected among men (13.38/1,000,000 PYs) in 2015. All-cause mortality decreased from 4.72/1,000,000 PYs to 0.79/1,000,000 PYs between 2012 and 2021. In conclusion, the UM incidence rate in Hungary is comparable to European incidence rates. The incidence did not markedly change, whereas all-cause mortality decreased during the study period, but this decline could not be attributed to improved treatment modalities for primary tumours and metastatic UM.}, year = {2024}, eissn = {2072-6694}, orcid-numbers = {Tóth, Gábor/0000-0002-9176-9442; Muzsik, Béla/0009-0004-9141-1573; Dinya, Elek/0000-0002-2620-8649; Csákány, Béla/0000-0002-3458-2390; Nagy, Zoltán Zsolt/0000-0002-7330-0464; Németh, János Tibor/0000-0001-8575-4888} } @article{MTMT:34538437, title = {A Comparative Pharmacokinetic Study for Cysteamine-Containing Eye Drops as an Orphan Topical Therapy in Cystinosis}, url = {https://m2.mtmt.hu/api/publication/34538437}, author = {Csorba, Anita and Katona, Gábor and Budai-Szűcs, Mária and Balogh Weiser, Diána and Molnár, P. and Maka, Erika and Nochta-Kazsoki, Adrienn Katalin and Vajna, Márton Antal and Zelkó, Romána and Nagy, Zoltán Zsolt and Balogh, György Tibor}, doi = {10.3390/ijms25031623}, journal-iso = {INT J MOL SCI}, journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES}, volume = {25}, unique-id = {34538437}, issn = {1661-6596}, year = {2024}, eissn = {1422-0067}, orcid-numbers = {Csorba, Anita/0000-0002-3256-9440; Katona, Gábor/0000-0003-1564-4813; Budai-Szűcs, Mária/0000-0001-5187-5702; Balogh Weiser, Diána/0000-0002-9957-1203; Maka, Erika/0000-0002-3631-3506; Nochta-Kazsoki, Adrienn Katalin/0000-0002-0611-3124; Vajna, Márton Antal/0000-0001-5280-7533; Zelkó, Romána/0000-0002-5419-9137; Nagy, Zoltán Zsolt/0000-0002-7330-0464; Balogh, György Tibor/0000-0003-3347-1880} } @article{MTMT:34524544, title = {The sub‐basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy}, url = {https://m2.mtmt.hu/api/publication/34524544}, author = {Szentmáry, Nóra and Csorba, Anita and Kormányos, Kitti and Csidey, Mária and Náray, Annamária and Kovács, Klaudia and Németh, Orsolya and Knézy, Krisztina and Bausz, Mária and Szigeti, Andrea and Szabó, Dorottya and Corton, Marta and Tory, Kálmán and Nagy, Zoltán Zsolt and Langenbucher, Achim and Maka, Erika}, doi = {10.1111/aos.16556}, journal-iso = {ACTA OPHTHALMOL}, journal = {ACTA OPHTHALMOLOGICA}, volume = {102}, unique-id = {34524544}, issn = {1755-375X}, year = {2024}, eissn = {1755-3768}, pages = {online}, orcid-numbers = {Szentmáry, Nóra/0000-0001-8019-1481; Csorba, Anita/0000-0002-3256-9440; Csidey, Mária/0000-0003-1542-6592; Kovács, Klaudia/0000-0002-1801-2347; Szigeti, Andrea/0000-0002-7420-6867; Tory, Kálmán/0000-0002-0316-6212; Nagy, Zoltán Zsolt/0000-0002-7330-0464; Langenbucher, Achim/0000-0001-9175-6177; Maka, Erika/0000-0002-3631-3506} } @article{MTMT:34529061, title = {Kétszáz éve született Petőfi Sándor, a költő, aki a Napba nézett : A solaris retinopathia egy esetének bemutatása}, url = {https://m2.mtmt.hu/api/publication/34529061}, author = {Ujváry, László and Knézy, Krisztina and Maka, Erika and Magyar, Márton and Nagy, Zoltán Zsolt}, doi = {10.55342/SZEMHUNGARICA.2023.160.4.203}, journal-iso = {SZEMÉSZET}, journal = {SZEMÉSZET}, volume = {160}, unique-id = {34529061}, issn = {0039-8101}, abstract = {Kétszáz éve, 1823-ban született Petőfi Sándor. Életének tizenkilencedik évében, 1842-ben teljes napfogyatkozást lehetett megfigyelni Magyarország területéről, amelyet a költő szabad szemmel nézett végig, maradandó látáskárosodást szenvedve. Rendhagyó kazuisztikánk célja a korabeli feljegyzések és Petőfi versei által dokumentált eset bemutatása, és a solaris retinopathia ismertetése.}, year = {2023}, pages = {203-206}, orcid-numbers = {Maka, Erika/0000-0002-3631-3506; Nagy, Zoltán Zsolt/0000-0002-7330-0464} } @article{MTMT:34528927, title = {A szemészeti génterápiák fejlődése : Pontszerző, továbbképző közlemény tesztkérdésekkel}, url = {https://m2.mtmt.hu/api/publication/34528927}, author = {Szabó, Viktória and Varsányi, Balázs and Nagy, Zoltán Zsolt}, doi = {10.55342/SZEMHUNGARICA.2023.160.4.154}, journal-iso = {SZEMÉSZET}, journal = {SZEMÉSZET}, volume = {160}, unique-id = {34528927}, issn = {0039-8101}, abstract = {A Szemészet hasábjain 2014-ben megjelent Genetika a szemészetben c. továbbképző közlemény folytatásaként jelen munkánkban szeretnénk összefoglalni a szemészeti genetika területén azóta elért biotechnológiai, diagnosztikus és terápiás eredményeket. Az elmúlt évek legnagyobb áttörése egyértelműen az RPE65-gén hibái okozta Leber congenitalis amaurosis (LCA) és retinitis pigmentosa (RP) kezelésére kifejlesztett voretigene-neparvovec törzskönyvezése és bevezetése a klinikai gyakorlatba. 2022 júliusában a Semmelweis Egyetem Szemészeti Klinikája akkreditációt kapott, mint Szemészeti Génterápiás Centrum és azóta megtörtént az első 10 kezelés LCA-ban szenvedő betegekben. A már bevezetett kezelés mellett számos más génterápiás kutatás, fejlesztés történik mind öröklődő, mind szerzett betegségek esetében. A terápiával párhuzamosan a genetikai diagnosztika is jelentős fejlődésen ment keresztül az elmúlt években: a módszerek jelentősen gyorsabbak és költséghatékonyabbak, ezáltal minden eddiginél szélesebb körben elérhetőek lettek. Kutatási együttműködések keretében hazánkban az elmúlt másfél évben több, mint 500 magyar öröklődő retinadisztrófiás beteg genotipizálása történt meg.}, year = {2023}, pages = {154-167}, orcid-numbers = {Nagy, Zoltán Zsolt/0000-0002-7330-0464} }