[Multidisciplinary management of patients affected with pseudoxanthoma elasticum].

Pseudoxanthoma elasticum (PXE, OMIM # 264800) is an autosomal recessive, multisystemic disorder, associated with mutations of the ABCC6 gene. Ectopic mineralization is in the background of the clinical manifestations of the disease. Calcium-salt crystals are deposited primarily in the skin, in the Bruch membrane of the eyes, and in the vascular endothelium.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

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.

Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.

Purpose: 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.

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.

Perioperative analgesia of infants during the therapy for retinopathy of prematurity.

Background: In this retrospective investigation, we compared the main anesthesiologic aspects in the preoperative, perioperative, and postoperative care of 2 different surgical methods (cryotherapy, laser coagulation) for retinopathy of prematurity.

Material/methods: A retrospective analysis of analgesia for retinopathy of prematurity was performed for a 14-year period. Infants treated from January 1994 to December 2007 were involved in the study.

Role of multifocal electroretinography in the diagnosis of idiopathic macular hole.

Purpose: To analyze the preoperative results of multifocal electroretinography (mfERG) in the fellow eyes of patients with idiopathic unilateral macular hole and to evaluate the usefulness of this method in predicting the likelihood of macular hole formation in the fellow eye.

Methods: Over a period of 5 years, 80 eyes of 40 patients (mean age, 64.9 years) with unilateral idiopathic macular hole were examined.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Purpose: To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS.

Methods: Complete ophthalmic examinations were performed on five members (two male patients, two female carriers, and one healthy fraternal male twin) of the family.

Optical coherence tomography of the macula in congenital achromatopsia.

Purpose: It is known that symptoms of congenital achromatopsia are caused by the lack of functioning cones, but there are very few published data on histologic changes in the retina in these cases. This study was conducted to examine in vivo the anatomic structure of the retina of patients with achromatopsia.

Methods: Fifteen eyes of eight patients with congenital achromatopsia and 18 eyes of nine control subjects were examined by optical coherence tomography.

Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.

Purpose: Autosomal recessive Stargardt disease (arSTGD) presents with substantial clinical and genetic heterogeneity. This study was conducted to correlate foveolar thickness (FT) and total macular volume (TMV), measured by optical coherence tomography (OCT), with other clinical characteristics and with specific genetic variation in Hungarian patients with arSTGD.

Methods: After a standard ophthalmic workup, both eyes of 35 patients with STGD from Hungary and of 25 age-matched healthy control subjects were tested with OCT.

Association of genetic polymorphisms of vascular endothelial growth factor and risk for proliferative retinopathy of prematurity.

The intention of our retrospective study was to determine whether vascular endothelial growth factor (VEGF) genetic polymorphisms are associated with risk for proliferative retinopathy of prematurity (ROP), a condition that is characterized by abnormal retinal neovascularization and can lead to retinal detachment and result in blindness. We enrolled 86 very low birth weight infants (birth weight < or =1500 g) who had been treated with cryo/laser therapy because of the risk for proliferative ROP (treated group). Their VEGF T-460C and G+405C genotypes were determined from dried blood samples and were compared with VEGF genotypes of 115 VLBW infants who were not treated with cryo/laser therapy (untreated group).

Laser treatment of zone I prethreshold and stage 3 threshold retinopathy of prematurity.

Purpose: To analyze the structural outcomes of zone I prethreshold and stage 3 threshold retinopathy of prematurity following laser ablation.

Patients And Methods: This nonrandomized observational case series evaluated 71 eyes of 36 infants who weighed less than 1,250 g at birth. Infants were treated at either prethreshold or threshold severity.

Utilization of lacrimal urea assay in the monitoring of hemodialysis: conditions, limitations and lacrimal arginase characterization.

The lacrimal urea content was found to be proportional to that of blood, which suggested its possible utilization in the monitoring of hemodialysis as a less invasive method. On the other hand, however, arginase activity was detected in tears, which may influence the urea content independently of blood urea concentration. The feasibility of using lacrimal urea measurement to replace blood urea measurement in the monitoring hemodialysis was also investigated.