Publications by authors named "R VAMOS"
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by mutations in the ABCC6 gene, leading to abnormal calcium-salt crystal deposits in the skin, eyes, and blood vessels.
- The disease results in a range of clinical symptoms including skin lesions, vision problems, and cardiovascular issues, which can vary widely among patients.
- Early diagnosis and a multidisciplinary approach involving specialists from dermatology, ophthalmology, cardiology, and genetics are essential for optimal patient management and to mitigate severe complications.
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD.
View Article and Find Full Text PDFPurpose: To introduce the first Hungarian patients with genetically defined Leber congenital amaurosis (LCA) and to report 2 novel mutations.
Methods: Seven otherwise healthy patients (4-29 years, 5 male and 2 female) who had an onset of severe visual impairment before age 2 years were investigated. The diagnosis was established in all individuals by medical history, funduscopy, and full-field electroretinogram (ERG).
The structure and function of the macula in patients with advanced retinitis pigmentosa.
Invest Ophthalmol Vis Sci
October 2011
Purpose: To assess the structure and function of the macula in advanced retinitis pigmentosa (RP).
Methods: Twenty-nine eyes of 22 patients with RP were compared against 17 control eyes. Time-domain optical coherence tomography (OCT) data were processed using OCTRIMA (optical coherence tomography retinal image analysis) as a means of quantifying commercial OCT system images.
Objective: To assess the influence of hyperoxygenation on surgical site infection by using the most homogeneous study population.
Design: A randomized, prospective, controlled trial.
Setting: Department of surgery in a government hospital.