Die Ophthalmologie最新文献

The vitreous body is the largest structure of the human eye and is subject to special requirements to ensure optimal light transmission. Its specific arrangement of collagen fibrils and water bound to hyaluronan minimizes light scattering while providing stability. In addition, the vitreous body harbors a tissue-specific immune cell population adapted to its particular needs, the hyalocytes. These cells perform key tasks in the regression of embryonic vessels, tissue homeostasis and immune surveillance, thereby significantly contributing to the integrity and function of the vitreous body. Both alterations in the composition or embryonic development of the vitreous body as well as dysfunction of its tissue-specific immune cells can form the basis of pathological processes.

Background: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of usually progressive retinal disorders that frequently lead to severe vision loss. The treatment options for these mostly monogenetic diseases are currently limited. As various treatment innovations are in the phase of clinical development, comprehensive clinical and genetic diagnostics are crucial.

Objective: This study aimed to characterize a German IRD cohort of 1000 patients, both phenotypically and genetically, to determine clinical characteristics including the genetic clarification rate. Indications for improving care and future treatment can be derived from these.

Material and methods: The medical records of patients reviewed in the IRD clinic at the University Eye Hospital Bonn between 2019 and 2023 were retrospectively reviewed. Demographic data, symptoms, age at symptom onset and diagnosis and genetic findings were collected. Genetic testing included Sanger sequencing, gene panels and exome/genome sequencing.

Results: Out of 1000 IRD patients (mean age: 40 years), 822 underwent genetic testing. A causative genetic mutation was identified in 78% of tested individuals. The most frequent clinical diagnoses were retinitis pigmentosa, macular dystrophies (including Stargardt disease). Accordingly, mutations were most frequently detected in the ABCA4, RPGR, USH2A and PRPH2 genes.

Conclusion: The diagnostic yield of 78% is at the upper end of international IRD studies, which reflects the use of comprehensive sequencing methods. The most frequent IRD genes were consistent with findings from international cohorts. Mutations were detected in over 90 different genes, underlining the genetic heterogeneity of IRDs. Overall, this emphasizes the importance of broad genetic testing, to identify IRD patients for clinical studies and new forms of treatment.

Fungal keratitis is still a relatively rare but very serious ophthalmological condition with a potentially vision-threatening course, possibly including even loss of the eye. Similar to acanthamoeba keratitis, it is often initially misdiagnosed at the slit lamp. For more than 20 years an increase in the incidence of fungal keratitis has been observed, also in Germany, possibly due to the increased use of soft contact lenses and climate change. This article provides an overview of the typical clinical signs and symptoms of keratomycosis and presents the latest findings in the field of diagnostics as well as drug and, in particular, microsurgical treatment. A special focus is placed on the indications and technique of emergency keratoplasty (à chaud) for fungal keratitis and its postoperative care.

Background: For many patients with age-related macular degeneration, diabetic retinopathy and other partially monogenetic retinal diseases as well as for tumors of the eye that are relatively rare but are usually associated with profound consequences for affected patients, there is still no effective treatment available. Metastatic melanoma, for example, remains poorly predictable with respect to disease progression, response to treatment and outcome. This illustrates the urgent need for a deeper molecular understanding of the disease with the goal to develop novel therapeutic strategies. Liquid biopsies of the aqueous humor represent a promising possibility for molecular analyses in the eyes of patients.

Objective: A clinical and scientific perspective with respect to potential fields of applications of liquid biopsy proteomics in ophthalmology is presented.

Material and methods: A systematic literature search was carried out in PubMed and the personal experiences of the authors are presented.

Results and conclusion: Aqueous humor proteomics offer a plethora of potential applications in ophthalmology and could become a key factor in personalized ophthalmology. Potential areas of application include the selection of treatment based on the activated biological signalling pathways, the selection of patients for clinical trials as well as the diagnostics, prognosis estimation and monitoring of the response to treatment. In addition, it can be a valuable component of multimodal diagnostics and enable insights into neurodegenerative diseases, such as Alzheimer's or Parkinson's disease.

A 14-year-old patient presented with an unilateral, painless vision impairment. Examination of the affected eye revealed central corneal edema and fine endothelial precipitates arranged in parallel lines, leading to the diagnosis of multiple parallel-line endotheliitis. Treatment with topical steroids and oral antiviral therapy resulted in rapid resolution of the findings. Additionally, a transient myopic shift and reduced endothelial cell density were observed.

Background: Crystalline retinopathies are characterized by refractile deposits within different retinal layers and may be associated with genetic, systemic, toxic, or iatrogenic causes. Talc retinopathy represents a well-described toxic entity related to intravenous drug abuse.

Case presentation: A 44-year-old male presented with intermittent bilateral visual impairment over four weeks. Best-corrected visual acuity was 0.8 in both eyes. Funduscopic examination revealed multiple fine, glistening crystalline deposits in the central retina without signs of intraocular inflammation. Optical coherence tomography demonstrated hyperreflective crystalline deposits involving inner and outer retinal layers. No evidence of retinal ischemia or vascular occlusion was observed. A targeted medical history revealed previous intravenous drug abuse, including amphetamines and cocaine, most recently in 2023. The patient's history did not suggest a medication-related cause; a hereditary etiology appeared unlikely based on clinical and imaging findings.

Conclusion: The findings are consistent with a non-inflammatory toxic crystalline retinopathy, most compatible with talc retinopathy. This case highlights the importance of multimodal retinal imaging and targeted historytaking for accurate diagnosis.