Klinische Monatsblatter fur Augenheilkunde最新文献

{"title":"Enzyme Replacement Therapy in CLN2-Associated Retinopathy.","authors":"Claudia Priglinger, Carolina Courage, Esther M Maier","doi":"10.1055/a-2528-7886","DOIUrl":"https://doi.org/10.1055/a-2528-7886","url":null,"abstract":"<p><p>Neuronal ceroid lipofuscinoses, also known as Batten disease, are comprised of a group of genetically heterogenous neurodegenerative conditions, characterized by dementia, epilepsy, motor deterioration, and blindness. The underlying pathology is a dysregulation of lysosomal catabolic protein metabolism, resulting in an accumulation of lipofuscein-like material within the lysosomes in neuronal tissue, which ultimately leads to atrophy in the central nervous system and in the retina. Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the <i>TPP1</i> gene, encoding lysosomal tripeptidyl peptidase 1 (TPP-1). The classic late-infantile phenotype of CLN2 disease has an age of onset between 2 and 4 years and manifests with seizures and speech delay, followed by progressive cognitive and motor decline, vision loss, and early death. Vision loss occurs secondary to retinal degeneration and begins in the perifoveal ellipsoid zone, leading to bull's eye maculopathy, followed by generalized retinal thinning. In 2017, an intracerebroventricular enzyme replacement therapy (ERT) using recombinant human TPP1 (rhTPP1), cerliponase alfa, was approved as a disease-modifying treatment for CLN2 disease. The therapy slows psychomotor decline but fails to prevent loss of vision. In a canine model of CLN2 disease, intravitreal rhTPP1 was shown to halt retinal degeneration. A prospective, interventional, controlled, open-label compassionate-use study evidenced safety of 0.2 mg intravitreal rhTPP1 every 8 weeks in humans and its efficacy in reducing the rate of macular volume loss in patients who were still in the degenerative phase. One ongoing clinical phase I/II study is investigating the safety and efficacy of intravitreal rhTPP1 at 4 weekly intervals over 24 months (NCT05152914); another clinical phase II dose escalation trial is planned. In this review, we summarize the current knowledge on ERT for CLN2 retinopathy, complemented with our own experience from an individual treatment. The treatment now appears to be safe and markedly delays retinal degeneration, thereby preserving visual function and increasing the quality of life of the patient. This could be particularly relevant for those patients who were started on intracerebroventricular ERT early and still have good motor and language function. For this patient population, intravitreal ERT could be a valuable bridging therapy until other therapies such as gene therapy become available.</p>","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":"242 3","pages":"213-218"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor, Klinische Monatsblätter für Augenheilkunde.","authors":"Birgit Lorenz","doi":"10.1055/a-2513-1069","DOIUrl":"https://doi.org/10.1055/a-2513-1069","url":null,"abstract":"","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":"242 3","pages":"184-186"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to Letter Regarding Our Paper on RPE65-Associated Retinal Dystrophies.","authors":"Katarina Stingl, Claudia Priglinger, Philipp Herrmann","doi":"10.1055/a-2513-1114","DOIUrl":"https://doi.org/10.1055/a-2513-1114","url":null,"abstract":"","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":"242 3","pages":"187"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term Outcomes of a Minimally Invasive Surgical Approach in Paediatric Patients with Congenital Dacryocystoceles.","authors":"Kerstin Stähr, Anja Eckstein, Inga Neumann, Timon Hussain, Stephan Lang, Stefan Mattheis","doi":"10.1055/a-2409-0958","DOIUrl":"10.1055/a-2409-0958","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital dacryocystoceles are a rare condition caused by nasolacrimal duct obstruction. Symptoms include epiphora, nasal obstruction, and swelling in the medial canthus. Treatment usually entails probing Hasner's valve open and, if necessary, intubating the nasolacrimal duct. We present a minimally invasive, endoscopic procedure with marsupialisation of the endonasal portion of the cele. The operation avoids additional manipulation of the lacrimal duct to prevent iatrogenic injury.</p><p><strong>Methods: </strong>This retrospective analysis included a total of nineteen infants or young children (21 eyes) aged 3 days to 39 months. Two of the patients were suffering from acute respiratory distress, seven from recurrent infections with persistent epiphora, and twelve from acute dacryocystitis with orbital phlegmon.</p><p><strong>Results: </strong>The endonasal portion of the dacryocele was detected in all cases and resected endonasally using an endoscope. Recurrences required revision surgery involving dacryocystorhinostomy after primary surgery in two patients aged of 22 and 39 months. All other seventeen patients were free of recurrence.</p><p><strong>Summary: </strong>Our results show endoscopic endonasal marsupialisation without additional intubation or probing of the lacrimal ducts to be a successful treatment strategy for congenital dacryocystoceles. This avoids iatrogenic scarring, false passages, or postoperative bacteraemia. The surgical technique presented here shows a lower success rate in older children with a history of inflammation.</p>","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":" ","pages":"240-244"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Secondary intraocular lens implantation].","authors":"Klemens Paul Kaiser, Mehdi Shajari","doi":"10.1055/a-2442-5354","DOIUrl":"10.1055/a-2442-5354","url":null,"abstract":"<p><p>In recent years, techniques for the secondary implantation of intraocular lenses have undergone significant further development. Despite the wide range of surgical indications, IOL dislocation and aphakia following complicated cataract surgery or other complicated intraocular procedures and trauma remain the most common reasons for secondary IOL implantation. In cases where it is not feasible to place the artificial lens in the capsular bag due to zonular weakness or insufficient stability of the capsular bag, the intraocular lens can be implanted in the anterior chamber or fixed in the ciliary sulcus, on the iris or on the sclera. The techniques differ not only in the anatomical structure of the fixation, but also in the type of intraocular lens and materials used. While some methods are technically easier and quicker to perform, the learning curve for other techniques is flatter and takes more time. The experienced ophthalmic surgeon should be familiar with several of these methods and be aware of the advantages, disadvantages and contraindications of the individual techniques in order to be able to choose the most suitable method based on the findings of the individual patient.</p>","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":" ","pages":"253-266"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Pharmacotherapy of ABCA4-associated Retinal Dystrophies].","authors":"Maximilian Gerhardt, Katarina Stingl, Milda Reith","doi":"10.1055/a-2533-1009","DOIUrl":"https://doi.org/10.1055/a-2533-1009","url":null,"abstract":"<p><p><i>ABCA4</i>-associated retinal dystrophies, including Stargardt's disease, comprise a heterogeneous group of inherited retinal diseases caused by mutations in the <i>ABCA4</i> gene and are inherited in an autosomal recessive manner. These diseases cause vision loss due to progressive degeneration of photoreceptors and retinal pigment epithelium, for which there is currently no approved treatment available. Based on the progress made in recent years and the well-understood pathobiology, promising therapeutic approaches have reached the clinical development phase, with pharmacological approaches being among the most advanced therapeutic options. Preclinical and clinical studies show progress in the development of drugs that have the potential to slow the progression of these diseases. Among these are compounds that have the potential to reduce lipofuscin accumulation in the retina, slow the formation of toxic vitamin A dimers or remove lipofuscin from the retina. Other substances interfere with the vitamin A metabolism in the visual cycle by reducing the amount of available vitamin A in the eye, which should lead to lower formation of toxic metabolic by-products. This article summarises the underlying pathophysiology of <i>ABCA4</i>-associated retinal degeneration and provides an overview of current pharmacological treatment approaches.</p>","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":"242 3","pages":"205-212"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cataract Surgery Training in Germany: A Survey by the European Board of Ophthalmology.","authors":"Rémi Yaïci, Johannes Schiefelbein, Sorcha Ní Dhubhghaill, Massira Melanie Sanogo, François Lefebvre, Wagih Aclimandos, Rimvydas Asoklis, Huban Atilla, Catherine Creuzot-Garcher, Denise Curtin, Barbara Cvenkel, Lisa Flanagan, Tero T Kivelä, Anna Maino, Rafael Martinez Costa, Helena Prior Filipe, Marcin Stopa, Brendan Strong, Jörg Peter Egon Stürmer, Marie-José Tassignon, Renata Ivekovic, Siegfried Priglinger, Tristan Bourcier","doi":"10.1055/a-2462-8222","DOIUrl":"https://doi.org/10.1055/a-2462-8222","url":null,"abstract":"<p><strong>Introduction: </strong>Phacoemulsification is a fundamental surgical skill for ophthalmology residents and the most commonly performed operation in the ever-evolving field of ophthalmology. A comprehensive study conducted between 2018 and 2022 showed wide variation in the experiences of European residents. The aim of this study was to study the data from Germany in the European data context.</p><p><strong>Methods: </strong>This study analyses survey results from German participants in European Board of Ophthalmology (EBO) examinations (2018 - 2022) and classifies the results in overall European comparison. We also performed a regional analysis by federal state.</p><p><strong>Results: </strong>Of a total of 445 addressees, 136 (30.6%) responded to the questionnaire. Around two-thirds or 67.7% had taken the EBO exam between 2021 and 2022; most of the study participants were women (59.6%) and the average age was 34 ± 2. By far the most at 89.7% were right-handed and came from fourteen different federal states, mostly from North Rhine-Westphalia, Baden-Württemberg, Bavaria, and Berlin. Under a quarter of respondents at 22.8% stated that they had carried out at least ten training sessions on animal eyes. Very few at 5.1% reported completing training sessions on synthetic eyes compared to 16.9% stating that they had trained on a virtual reality simulator. Having taken more than ten training sessions correlated significantly with higher confidence at performing cataract surgery (p < 0.001). Eighty-three respondents (61%) had not performed any of the steps taken in cataract surgery on patients during specialty training in Germany. This was well above the European average. Women were statistically significantly overrepresented in this subgroup, accounting for 67.5% (p = 0.019) of the subgroup.</p><p><strong>Discussion: </strong>In the European context, the German national specialty training curriculum does not require cataract operations in any set numbers. This model may have contributed to the significant gender differences. Simulation-based medical training may address this problem as an additional tool for more equitable access to surgical training.</p><p><strong>Conclusion: </strong>Intra-European comparison and exchange may help improve guidelines for ophthalmological specialty training. This might standardise and improve training standards in both conservative and surgical ophthalmology throughout Europe.</p>","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Twelve-Month Outcomes of Combined Phacoemulsification with Ab Interno Canaloplasty Versus Single-Use Dual Blade Goniotomy in Glaucoma Patients.","authors":"Julia Prinz, Niklas Plange, Hannah Schellhase, Peter Walter, Matthias Fuest, Antonis Koutsonas, David Kuerten","doi":"10.1055/a-2512-8141","DOIUrl":"https://doi.org/10.1055/a-2512-8141","url":null,"abstract":"<p><strong>Background: </strong>To compare the efficacy and safety of combined phacoemulsification with ab interno canaloplasty (Phaco-AbiC) versus single-use dual blade goniotomy (Phaco-DBG).</p><p><strong>Material and methods: </strong>In this prospective consecutive case series, intraocular pressure (IOP), the number of IOP-lowering medications, the mean deviation (MD) of visual field testing, and surgery-related complications were evaluated in 25 eyes following Phaco-AbiC and 20 eyes following Phaco-DBG through 12 months of follow-up. Qualified or complete success was defined as postoperative IOP lower than 21, 18, and 16 mmHg with or without IOP-lowering medications.</p><p><strong>Results: </strong>At the 12-month follow-up, IOP was significantly reduced compared to baseline in the Phaco-AbiC (14.2 ± 2.7 versus 19.2 ± 4.7 mmHg, p < 0.001) and Phaco-DBG groups (16.7 ± 3.4 versus 19.9 ± 3.9 mmHg, p < 0.001). At the 12-month follow-up, IOP was significantly higher following Phaco-DBG than Phaco-AbiC (p = 0.011). Compared to baseline, the number of IOP-lowering medications was significantly reduced in the Phaco-AbiC (1.2 ± 1.4 versus 2.4 ± 1.0, p < 0.001) and Phaco-DBG groups (0.8 ± 0.9 versus 2.1 ± 0.9, p < 0.001) at the 12-month follow-up. For IOP lower than 16 mmHg, the complete and qualified success rate was significantly higher following Phaco-AbiC (36.0 and 76.2%, respectively) than Phaco-DBG (17.5 and 40.6%; p = 0.037; p = 0.007, respectively). No severe intra- or postoperative complications occurred.</p><p><strong>Conclusion: </strong>Both Phaco-AbiC and Phaco-DBG achieved a significant reduction in IOP and IOP-lowering medications at the 12-month follow-up. IOP was significantly lower 12 months following Phaco-AbiC than Phaco-DBG.</p>","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term Follow-up of Outer Retinal Microdefects (ORMDs) in Pachychoroid Pigment Epitheliopathy (PPE) and Subsequent Central Serous Chorioretinopathy (CSCR): A Report of Two Cases.","authors":"Mihaela Chitoroaga, Yannic Pannatier Schuetz, Daniela Gallo Castro, Anna Chiara Nascimbeni, Aude Ambresin","doi":"10.1055/a-2500-5687","DOIUrl":"https://doi.org/10.1055/a-2500-5687","url":null,"abstract":"","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Stage-appropriate Interventional Therapy for Peripheral Ulcerative Keratitis - a Dual Case Study of Corneal Ulcers with Different Presentations].","authors":"Vesna Bosic, Elias Flockerzi, Berthold Seitz, Loïc Hamon","doi":"10.1055/a-2517-6536","DOIUrl":"https://doi.org/10.1055/a-2517-6536","url":null,"abstract":"","PeriodicalId":17904,"journal":{"name":"Klinische Monatsblatter fur Augenheilkunde","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}