De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.

[Retinal Vein Occlusions].

As retinal vein occlusion is such a complex systemic disease, its underlying risk profile should be narrowed down individually. Ophthalmologists should always rule out glaucoma or ocular hypertension while also screening the patient for systemic vascular diseases or risk factors in particular. Intravitreally applied medication (VEGF inhibitors or steroids) and laser coagulation (focal or panretinal) or a combination thereof can be considered to treat such retinal anomalies.

Perioperative Management of Coagulation Disorders in Ophthalmic Surgery.

Disorders of blood coagulation can lead to manifest spontaneous bleeding and an increased risk of bleeding during surgical procedures and interventions. Pathophysiologically, a distinction can be made between defects in primary haemostasis, which lead to impaired platelet adhesion and platelet aggregation, and disorders of secondary (plasmatic) haemostasis, which are characterised by impaired fibrin formation or fibrin stabilisation. Aetiologically, a distinction can be made between rare genetically-determined hereditary defects and common acquired coagulation disorders, which may be based on different pathomechanisms.

[DOG-EyeTeacher: a response by the Teaching Association to the medical study restructuring].

Background: The Masterplan Medicine 2020 adopted in 2017 entails many changes to the medical studies curriculum. The new structure affects the content of the coursework and its main focus. A major goal of this masterplan is to prepare young physicians by teaching the skills that are essential for the future profession.

Transforming the future of ophthalmology: artificial intelligence and robotics' breakthrough role in surgical and medical retina advances: a mini review.

Over the past decade, artificial intelligence (AI) and its subfields, deep learning and machine learning, have become integral parts of ophthalmology, particularly in the field of ophthalmic imaging. A diverse array of algorithms has emerged to facilitate the automated diagnosis of numerous medical and surgical retinal conditions. The development of these algorithms necessitates extensive training using large datasets of retinal images.

[Aflibercept in a real-world setting: the AURIGA study : 24-month results of the German cohort of treatment-naïve patients with macular edema following retinal vein occlusion receiving intravitreal aflibercept].

Background: AURIGA is the largest prospective real-world study to evaluate intravitreal aflibercept 2 mg (IVT-AFL) treatment of macular edema (ME) secondary to retinal vein occlusion (RVO) and diabetic macular edema. Here we present the 24-month data from the German cohort of treatment-naïve patients with ME due to RVO.

Methods: Treatment-naïve patients with ME secondary to RVO were treated with IVT-AFL 2 mg in the routine clinical practice.

Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.

Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). This results in low levels of plasma inorganic pyrophosphate (PPi), a critical anti-mineralization factor.

[ChatGPT and the German board examination for ophthalmology: an evaluation].

Purpose: In recent years artificial intelligence (AI), as a new segment of computer science, has also become increasingly more important in medicine. The aim of this project was to investigate whether the current version of ChatGPT (ChatGPT 4.0) is able to answer open questions that could be asked in the context of a German board examination in ophthalmology.

Early REperfusion therapy with intravenous alteplase for recovery of VISION in acute central retinal artery occlusion (REVISION): Study protocol of a phase III trial.

Rationale: Meta-analyses of case series of non-arteritic central retinal artery occlusion (CRAO) indicate beneficial effects of intravenous thrombolysis when initiated early after symptom onset. Randomized data are lacking to address this question.

Aims: The REperfusion therapy with intravenous alteplase for recovery of VISION in acute central retinal artery occlusion (REVISION) investigates intravenous alteplase within 4.

Intravitreal Injections: Improving Sustainability by Reducing Clinical Waste.

Background: Intravitreal injections are one of the most commonly performed ophthalmic procedures. It is estimated that over 1 million intravitreal injections are performed in Germany annually. The aim of this study was to quantify the waste and carbon footprint associated with single-use injection sets, and to establish a waste reduction strategy.

[Surgical therapy and pathogen detection in endogenous endophthalmitis : Analysis of data from five German eye hospitals].

Background: Endogenous endophthalmitis results from hematogenous spread of bacterial or fungal infection in severely diseased patients. Specific systemic and intraocular therapy is required. The basis for this treatment is causal pathogen detection in blood culture or vitreous sample.

[Internistic clarification of retinal vascular occlusions].

Retinal vascular occlusions require close cooperation of different medical disciplines to ensure optimal care of the affected patients. The medical clarification between arterial and venous occlusions is comparable but in the case of retinal arterial occlusions it should be carried out immediately. The most important associated diagnoses are arterial hypertension, diabetes mellitus, dyslipidemia, and atrial fibrillation.

[Chronic eye pain].

Numerous conditions in the field of ophthalmology are associated with pain in or around the eye. Chronic pain associated with the eye is a common finding in the daily routine of ophthalmologists and can be associated with primary ocular or extraocular diseases as well as with other conditions. Appropriate diagnostic assessment and management of people with chronic pain requires an understanding of the condition based on the biopsychosocial model in which the interactions of biological/somatic, psychological and social factors are determining pain and suffering.

Retinal Vascular Occlusion and Underlying Generalized Vascular Diseases.

Retinal vascular occlusion not only threatens vision loss but is also associated with other systemic risk factors and vascular diseases. Interdisciplinary cooperation is of great importance in these patients. The risk factors hardly differ between arterial and venous retinal occlusions, which is due to the special anatomy of retinal vessels.

Relevance of Laser Flare Photometry in Retinal Pathologies.

Laser flare photometry provides a non-invasive and objective measurement of the Tyndall effect in the anterior chamber. The laser flare value (measured in photon number per millisecond [pc/ms]) thus quantifies the extent of disruption to the blood-aqueous barrier and can be used in clinical applications to monitor uveitis therapy or to measure the postoperative degree of inflammation. Standardised performance must be observed during measurement.

Central retinal artery occlusion - detection score.

Purpose: To investigate the sensitivity and specificity of central retinal artery occlusion (CRAO)-Detection Score in diagnosing CRAO questionnaire and without fundoscopy.

Methods: This prospective study enrolled 176 emergency patients suffering from acute visual loss, of whom 38 were suffering from CRAO. Before conducting any examination, we administered our questionnaire containing six questions, followed by a thorough ophthalmologic examination to make the diagnosis.

Benefit of intravitreal injections in patients with sub-threshold baseline visual acuity: a retrospective single-centre study.

Purpose: To investigate the lower visual acuity threshold for recommending intravitreal injection therapy (IVI). The lower limit of 1.3 logMAR best-corrected visual acuity (BCVA) was adopted in 2006 and has been maintained since then.

[Ocular alterations in patients with Alport syndrome-An update].

Background And Objective: Alport syndrome (AS) is a rare hereditary systemic disease that results in alterations of the kidneys, inner ear, and various structures of the eye. It is caused by mutations in one of the genes encoding collagen type IV. In recent years, new and innovative imaging techniques have added characteristics of ocular alterations in AS and provided new insights, including into the pathogenesis of the disease.