Klinische Monatsblatter fur Augenheilkunde最新文献

Objective: Before planned enucleation, local tumor extension in advanced retinoblastoma is routinely assessed preoperatively using high-resolution magnetic resonance imaging (MRI). The aim of our study was to analyse the predictive value of MRI and clinical characteristics for predicting tumor extent, as confirmed by histopathology postoperatively.

Patients and methods: All consecutive patients were included who underwent primary enucleation for advanced retinoblastoma after high-resolution MRI examination in our hospital between January 2011 and December 2021. The primary study endpoint was the evaluation of the predictability of histopathological risk factors on preoperative MRI examination. The sensitivity and specificity of the MRI examination with respect to clinically relevant optic nerve infiltration and choroidal infiltration were determined.

Results: The mean age of the 209 included patients was 1.6 years (range 1 month to 4.7 years). MRI indicated optic nerve infiltration in 46 (22%) patients, extensive choroidal infiltration in 78 (40.2%) patients, and scleral infiltration in one patient (2.6%). Histopathological examination demonstrated postlaminar optic infiltration in 25 (12%) patients and extensive choroidal infiltration in 17 (8.1%) cases. Scleral infiltration was evident in 8 (3.8%) patients. In the final multivariate analysis, MRI findings of tumor infiltration and a preoperative intraocular pressure ≥ 20 mmHg were independently associated with histopathological evidence of clinically relevant optic nerve (p = 0.033/p = 0.011) and choroidal infiltration (p = 0.005/p = 0.029). The diagnostic accuracy of the prediction models based on the multivariate analysis for the identification of the clinically relevant optic nerve (AUC = 0.755) and choroidal infiltration (AUC = 0.798) was greater than that of purely MRI-based prediction (respectively 0.659 and 0.742). The sensitivity and specificity of MRI examination for determining histopathological risk factors in our cohort were 64% and 65% for clinically relevant optic infiltration and 87% and 64% for clinically relevant choroidal infiltration.

Conclusion: The local tumor extent of retinoblastoma with infiltration of the optic nerve and choroid can be well estimated based on radiological and clinical characteristics before treatment initiation. The combination of clinical and radiological risk factors supports the possibility of early treatment stratification in retinoblastoma patients.

Inherited retinal diseases (IRDs) represent a heterogeneous group of genetically driven conditions that frequently lead to progressive vision loss. Due to their complexity and the limited therapeutic options available, they pose a significant challenge for ophthalmology. This article provides a comprehensive overview of current evidence-based therapeutic approaches, including pharmacological strategies, gene therapy, and stem cell therapy, as well as innovative developments such as optogenetics and retinal implants. While gene therapies like Luxturna for RPE65-associated retinitis pigmentosa have paved the way for causal treatments, initial successes are also being observed in other retinal dystrophies, such as Stargardt disease and Usher syndrome. Rehabilitative measures and interdisciplinary care remain essential to improving the quality of life for affected individuals. Future research efforts focus on enhancing the efficacy and accessibility of therapies while addressing challenges such as inflammatory reactions, high costs, and genetic variability. The perspectives outlined highlight promising advancements in the treatment of genetic retinal diseases.

Background: We observed cases of unilateral upper eyelid retraction (UER) with unclear pathogenesis, where a definitive diagnosis of Graves' orbitopathy (GO) could not be made and other pathologies were ruled out. The aim is to present patients' findings, discuss possible underlying mechanisms, and to describe diagnostic testing and therapeutic approaches.

Patients and methods: Patients were retrospectively analyzed who presented to the Department of Ophthalmology of LMU Munich between 2016 and 2021 without a definitive diagnosis of GO or other pathological causes.

Results: Thirteen patients with unexplained UER were included; all showed thickening of the levator complex in imaging. When biopsy was performed, no malignancy could be detected. Therapeutic strategies included oral steroids and surgical upper eyelid blepharotomy.

Conclusion: As regards to pathogenesis, in 7/13 patients, a condition of idiopathic UER due to an idiopathic inflammatory response can be postulated rather than a variant of GO.