Purpose: The postoperative occurrence of corneal guttae (CG) in patients after Descemet membrane endothelial keratoplasty (DMEK) can lead to a significant reduction in visual acuity (VA) with the subsequent need for repeat DMEK. Therefore, the aim of this study was to analyze the prevalence and clinical significance of CG in transplanted corneas after DMEK.
Methods: The prevalence and progression of CG after DMEK of 1657 patients were examined using endothelial specular microscopy images.
Purpose: The purpose of our study was to assess the phenotypic and genotypic spectrum in a large cohort of patients with PRPF31-associated retinal dystrophy.
Design: Retrospective cohort study.
Methods: In this retrospective chart review study, we collected cross-sectional data on the phenotype and genotype of patients with PRPF31-associated retinal dystrophy from the clinics for inherited retinal dystrophies at the University of Tuebingen and the local RetDis database and biobank.
Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid substitutions at the hotspot codons Arg390 and Arg391. Six patients from five families with heterozygous missense variants in TUBB4B were included in this observational study. Ophthalmological testing included best-corrected visual acuity, fundus examination, optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ERG).
View Article and Find Full Text PDFPurpose: To analyze torpedo maculopathy (TM) and to report the characteristics of the disease.
Methods: Retrospective study. The review of a database for clinical diagnosis identified eight patients with TM lesions in the retina between 2016 and 2022.
Purpose: This study aims to examine the impact of the A-scan rate in optical coherence tomography (OCT) on scan quality and acquisition time.
Methods: Two horizontal OCT scans per scan rate (20, 85, 125 kHz) of the right eye were captured with the same OCT device (Spectralis SHIFT, HRA + OCT, Heidelberg Engineering GmbH, Heidelberg, Germany) of patients who presented to the inherited retinal dystrophies consultation, thus predominantly challenging patients due to reduced fixation ability. Scan quality was measured by the Q score, a signal-to-noise-ratio (SNR).