A5084789960- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Connexins and lens biology
- Intraocular Surgery and Lenses
- Glaucoma and retinal disorders
- Retinal and Optic Conditions
- Retinal and Macular Surgery
- Photoreceptor and optogenetics research
- Corneal Surgery and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Drug-Induced Ocular Toxicity
- Retinal Imaging and Analysis
- Corneal surgery and disorders
- Ocular Surface and Contact Lens
- Mitochondrial Function and Pathology
- Vasculitis and related conditions
- Hearing, Cochlea, Tinnitus, Genetics
- Visual perception and processing mechanisms
- Ophthalmology and Visual Health Research
- Ocular Disorders and Treatments
- Systemic Lupus Erythematosus Research
- Neuroscience and Neuropharmacology Research
- Retinopathy of Prematurity Studies
- melanin and skin pigmentation
- Ophthalmology and Visual Impairment Studies
Ljubljana University Medical Centre
2015-2024
University of Ljubljana
2010-2024
Foundation Fighting Blindness
2011
Moorfields Eye Hospital NHS Foundation Trust
2011
Institute of Ophthalmology
2011
University College London
2011
Moorfields Eye Hospital
2011
University Medical Center
2009
University Clinical Centre
2008
Johns Hopkins University
2006
Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), and age-related macular degeneration (AMD). Comparative genetic analyses of diagnostics have complicated by substantial allelic heterogeneity differences screening methods. To overcome these limitations, we designed a genotyping microarray (gene chip) for that includes all ∼400 disease-associated other...
Usher syndrome (USH), the most prevalent cause of hereditary deafness–blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1–3) are distinguishable based on severity sensorineural hearing impairment, presence or absence vestibular dysfunction, age onset retinitis pigmentosa. A total 10 causal genes, 6 for USH1, 3 USH2, 1 USH3, USH2 modifier gene, have been identified. robust molecular diagnosis required not only to improve genetic...
The pattern electroretinogram (PERG) is a retinal response evoked by viewing temporally alternating pattern, usually black and white checkerboard or grating. PERG important in clinical research applications because it provides information both about ganglion cell function and, the stimulus customarily viewed with central fixation, of macula. can therefore facilitate interpretation an abnormal VEP revealing responses to similar that used for VEP. However, practitioners may have difficulty...
To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) relate to underlying genetic mutation.Patients underwent ophthalmic examination functional testing including pattern ERG, full-field long-duration short-wavelength stimulation. Further tests were performed in some patients, color contrast sensitivity (CCS), multifocal fundus autofluorescence imaging (FAI), optical coherence tomography (OCT), fluorescein...
Keratoconus (KC) is a bilateral, noninflammatory, and progressive corneal ectasia that occurs mostly as sporadic disorder, but it has long been recognized significant minority of patients also exhibit family history. In recent years, several candidate genes, including VSX1 SOD1, have proposed some disease-causing mutations identified.To investigate the role 2 genes in 113 Slovenian with familial KC, complete coding region corresponding intronic sequences was analyzed. The same regions both...
To determine the incidence of permanent visual loss (PVL) in giant cell arteritis (GCA) and GCA relapse rate during glucocorticoid (GC) tapering. This prospective, longitudinal single secondary/tertiary rheumatology centre study was conducted between September 2011 2014 Slovenia. Predetermined clinical laboratory tests were performed at 12, 24, 48, 96, 144 weeks after diagnosis. Sixty-eight patients (72.1% female), with a median (IQR) age 73.2 (67.3–76.1) years symptom duration before...
Pars plana vitrectomy (PPV) is preferred surgical procedure for the management of complex rhegmatogenous retinal detachment (RRD). The purpose this study was to evaluate anatomical results primary PPV treatment RRD and determine influence lens status, tamponading agent, preoperative proliferative vitreoretinopathy (PVR) axial length (AL) eye upon outcome. A retrospective consecutive chart analysis performed on 117 eyes from patients with managed PPV. Fifty-nine were phakic 58 pseudophakic...
Introduction X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish structural and functional endpoints clinical trials, comprehensive understanding of the inter-eye symmetry, relationship between parameters, disease progression vital. Methods In this retrospective multicentre study, 118 eyes 59 XLRS patients with RS1 mutations were assessed. Information from center databases included: variant; age at presentation; best-corrected visual acuity...
<h3>Aim:</h3> In this retrospective cohort study we investigated the long-term course and visual outcomes of intermediate uveitis (IU). <h3>Methods:</h3> We performed an institutional patients with IU a follow-up at least 10 years, followed tertiary referral centre. <h3>Results:</h3> studied 29 unilateral or bilateral IU. The average age onset was 31 (range 8–64) years. At onset, three (10%) had associated systemic disease (two sarcoidosis one multiple sclerosis) patient granuloma annulare....
Purpose: Contact lenses, osmotic stressors, and chemical burns may trigger severe discomfort vision loss by damaging the cornea, but signaling mechanisms used corneal epithelial cells (CECs) to sense extrinsic stressors are not well understood. We therefore investigated of swelling, temperature, strain, transduction in mouse CECs. Methods: Intracellular calcium imaging conjunction with electrophysiology, pharmacology, transcript analysis, immunohistochemistry, bioluminescence assays...
To assess the correlation between retinal morphology and function in patients with retinitis pigmentosa (RP) using spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging (FAF), fundus-related perimetry to use coregistration of data sets achieve high-resolution structure-function human macula.Twelve RP hyperautofluorescent parafoveal ring FAF were tested. Ophthalmological examination, static kinetic perimetry, SD-OCT performed. Custom software allowed SD-OCT,...
To analyse the anterior lens capsule thickness and ultrastructure changes of intumescent white cataracts in comparison with nuclear to prove possible structural reasons for surgical difficulties cataract.Anterior capsules from 35 eyes were analysed their by semithin sections technique morphological characteristics transmission electron microscopy.Capsule was not significantly different compared (mean values 17.5 18.5 μm, respectively, p = 0.369). The main features extrusions at basement...
To determine whether the vitreous levels of interleukin 8 (IL-8) and vascular endothelial growth factor (VEGF) patients with proliferative diabetic retinopathy (PDR) were associated poor visual acuity after vitrectomy.Observational cross-sectional study. Patient clinical characteristics preoperative eye (63 eyes): acuity, iris neovascularization, haemorrhage, macular detachment, oedema, active retinal neovascularization disc, burned out PDR (defined as natural end stage inactive membranes...