Katarína Štingl
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View article: Mild <i>RPE65</i> -Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation
Mild <i>RPE65</i> -Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation Open
Localized multimodal diagnostics help detect early changes in mild RPE65-associated IRDs, supporting precise monitoring and gene therapy counseling.
View article: Measuring Rod- and Cone-Photoreceptor–Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter
Measuring Rod- and Cone-Photoreceptor–Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter Open
Photoreceptor-specific function can be measured over a large dynamic range using a turnkey commercial perimeter and a relatively short, practical protocol that may be introduced into the clinic, translational work, and clinical trials.
View article: Safety and vision outcomes of subretinal gene supplementation therapy in <i>PDE6A</i>-associated retinitis pigmentosa: a non-randomised controlled trial
Safety and vision outcomes of subretinal gene supplementation therapy in <i>PDE6A</i>-associated retinitis pigmentosa: a non-randomised controlled trial Open
Purpose PDE6A -associated retinitis pigmentosa (RP) is a rare inherited retinal disease leading to severe vision loss and blindness, with no available treatment. This study assessed the safety and vision outcomes of a gene therapy using an…
View article: Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in <i>USH2A</i>-Related Retinal Degeneration (RUSH2A) Study
Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in <i>USH2A</i>-Related Retinal Degeneration (RUSH2A) Study Open
Average yearly change in mean DAVF measures was comparable with the annual change on full-field stimulus testing and faster than in cone-mediated measures. Two-color DAVFs identified rod-mediated function in the majority of patients with U…
View article: Flavoprotein Fluorescence Imaging in Stargardt Disease: Linking Metabolic Stress to Structural Damage
Flavoprotein Fluorescence Imaging in Stargardt Disease: Linking Metabolic Stress to Structural Damage Open
This study demonstrates that FPF imaging is a promising tool for detecting early metabolic changes in Stargardt disease, potentially serving as a non-invasive biomarker for monitoring disease progression and treatment response. However, cu…
View article: Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive <i>RPE65</i>-Associated Retinal Dystrophy Treated With Voretigene Neparvovec
Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive <i>RPE65</i>-Associated Retinal Dystrophy Treated With Voretigene Neparvovec Open
This study aids clinical decision-making in unclear cases by demonstrating that early treatment with voretigene neparvovec in mild RPE65-IRD provides functional benefits while minimizing the risk of fast-growing chorioretinal atrophy.
View article: Fast ERG 15 Hz flicker protocol for assessing functional changes in the rod system
Fast ERG 15 Hz flicker protocol for assessing functional changes in the rod system Open
The new protocol is suitable for integration into a daily clinical environment, offering short and well-balanced protocols to address complex retinal network interactions.
View article: ABCA4-associated disease in childhood and adolescence– a phenotype study
ABCA4-associated disease in childhood and adolescence– a phenotype study Open
View article: Lost in communication: How Müller glia cells fail to maintain retinal integrity in USH1C retinal organoids
Lost in communication: How Müller glia cells fail to maintain retinal integrity in USH1C retinal organoids Open
Usher syndrome type 1, caused by pathogenic variants in the USH1C gene, leads to congenital deafness and progressive retinal degeneration resulting in vision loss. While auditory deficits can be compensated by cochlea implants and hearing …
View article: Functional Vision Assessment Over 4 Years in <i>USH2A</i> Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire
Functional Vision Assessment Over 4 Years in <i>USH2A</i> Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire Open
The VALVVFQ-48 may not be a sensitive measure for evaluating longitudinal outcomes in all persons with USH2A-associated retinal degeneration.
View article: The Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study
The Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study Open
Some caregivers reported employment and mental health impacts in this study. However, despite many hours spent per week caring for patients with XLRP, the surveys did not reflect the expected burden experienced by caregivers, highlighting …
View article: Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies Open
Background This study investigates the clinical manifestations of inherited retinal diseases (IRD) associated with dual-gene variant constellations involving biallelic ABCA4 variants. Methods We assess four cases for their unique phenotypi…
View article: Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Variants in CFAP410 cause a range of retinal and skeletal phenotypes Open
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from mul…
View article: Multidimensional Functional Phenotyping Based on Photoreceptor-Directed Temporal Contrast Sensitivity Defects in Inherited Retinal Diseases
Multidimensional Functional Phenotyping Based on Photoreceptor-Directed Temporal Contrast Sensitivity Defects in Inherited Retinal Diseases Open
LMDlow, SMD, and RMD were the most important parameters. Photoreceptor-directed tCSs allow sophisticated functional phenotyping of inherited retinal diseases and complement other structural and functional parameters for genotype-phenotype …
View article: Single-guide RNA Cas9 and enhanced-deletion Cas9 rescue a recurrent USH2A-related splicing defect
Single-guide RNA Cas9 and enhanced-deletion Cas9 rescue a recurrent USH2A-related splicing defect Open
Missplicing of transcripts is a frequent molecular mechanism in a wide range of inherited genetic conditions. Therapeutic splicing correction can be achieved through antisense oligonucleotides; however, they do not enable permanent correct…
View article: The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study
The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study Open
Background/aims X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5–15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of…
View article: OCT Biomarkers in a Cohort of Patients With <i>PRPF31</i>‐Associated Retinitis Pigmentosa
OCT Biomarkers in a Cohort of Patients With <i>PRPF31</i>‐Associated Retinitis Pigmentosa Open
Purpose: With degeneration of the photoreceptors in retinitis pigmentosa (RP), the reflectivity of the ellipsoid zone (EZ) decreases. We aimed to study characteristics of the EZ and its reflectivity in a cohort of patients with PRPF31 ‐ass…
View article: Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study
Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: Age-dependencies of the electroretinogram in healthy subjects
Age-dependencies of the electroretinogram in healthy subjects Open
View article: Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute Open
Introduction: The purpose of this project was to explore the current standards of clinical care genetic testing and counseling for patients with inherited retinal diseases (IRDs) from the perspective of leading experts in selected European…
View article: A CASE OF ACUTE ZONAL OCCULT OUTER RETINOPATHY UNDER IMMUNOMODULATORY TREATMENT
A CASE OF ACUTE ZONAL OCCULT OUTER RETINOPATHY UNDER IMMUNOMODULATORY TREATMENT Open
Purpose: To describe the clinical course and treatment response of a case of acute zonal occult outer retinopathy. Methods: This is an observational case report. The examinations included ophthalmic examination, longitudinal multimodal ima…
View article: Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy Open
Our study confirms high phenotypic variability in disease onset and age at which legal blindness is reached in PRPF31-associated RP. Non-penetrance is commonly documented in family history, although poorly represented in our study, possibl…
View article: S-cone contribution to oscillatory potentials in patients with blue cone monochromacy
S-cone contribution to oscillatory potentials in patients with blue cone monochromacy Open
Purpose The aim of this exploratory study is to investigate the role of S-cones in oscillatory potentials (OPs) generation by individuals with blue-cone monochromacy (BCM), retaining S-cones, and achromatopsia (ACHM), lacking cone function…
View article: Self-Reported Functional Vision in <i>USH2A</i>-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire
Self-Reported Functional Vision in <i>USH2A</i>-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire Open
Self-reported FV measured by the MRDQ, when applied to USH2 and ARRP participants, had good distributional characteristics and correlated well with visual function tests. MRDQ adds a new dimension of understanding on vision-related functio…
View article: Adaptive optics retinal imaging in patients with usher syndrome
Adaptive optics retinal imaging in patients with usher syndrome Open
Purpose To determine the structure of the cone photoreceptor mosaic in the macula in eyes with retinitis pigmentosa related to Usher syndrome using adaptive optics fundus (AO) imaging and to correlate these findings with those of the stand…
View article: Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes Open
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 su…
View article: Comparison of Full-Field Stimulus Threshold Measurements in Patients With Retinitis Pigmentosa and Healthy Subjects With Dilated and Nondilated Pupil
Comparison of Full-Field Stimulus Threshold Measurements in Patients With Retinitis Pigmentosa and Healthy Subjects With Dilated and Nondilated Pupil Open
Our data provide useful information for the clinical use of FST.
View article: Simulating vision impairment in virtual reality: a comparison of visual task performance with real and simulated tunnel vision
Simulating vision impairment in virtual reality: a comparison of visual task performance with real and simulated tunnel vision Open
In this work, we explore the potential and limitations of simulating gaze-contingent tunnel vision conditions using Virtual Reality (VR) with built-in eye tracking technology. This approach promises an easy and accessible way of expanding …
View article: EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defects
EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defects Open
Background Correct splicing of transcripts is essential to ensure the production of functional gene products in eukaryotic cells. Missplicing of transcripts has been identified as the underlying molecular mechanisms behind various disease-…
View article: Defining reference values of arterioles in healthy individuals for studies with adaptive optics imaging
Defining reference values of arterioles in healthy individuals for studies with adaptive optics imaging Open
Purpose To investigate age-dependent wall to lumen ratio (WLR) reference values for healthy individuals in adaptive optics imaging (AO). WLR serves as an objective, dimensionless parameter for the evaluation of structural changes in vessel…