Laura Kuehlewein
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View article: Fixel-Based Analysis reveals microstructural visual pathway changes associated with retinal remodeling in retinitis pigmentosa
Fixel-Based Analysis reveals microstructural visual pathway changes associated with retinal remodeling in retinitis pigmentosa Open
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, traditionally considered a photoreceptor degenerative disorder. However, the relationship between retinal degeneration and structural alterations along central visua…
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: 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: ABCA4-associated disease in childhood and adolescence– a phenotype study
ABCA4-associated disease in childhood and adolescence– a phenotype study Open
View article: Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy Open
View article: Development and validation of an AI algorithm to generate realistic and meaningful counterfactuals for retinal imaging based on diffusion models
Development and validation of an AI algorithm to generate realistic and meaningful counterfactuals for retinal imaging based on diffusion models Open
Counterfactual reasoning is often used by humans in clinical settings. For imaging based specialties such as ophthalmology, it would be beneficial to have an AI model that can create counterfactual images, illustrating answers to questions…
View article: An inherently interpretable AI model improves screening speed and accuracy for early diabetic retinopathy
An inherently interpretable AI model improves screening speed and accuracy for early diabetic retinopathy Open
Diabetic retinopathy (DR) is a frequent complication of diabetes, affecting millions worldwide. Screening for this disease based on fundus images has been one of the first successful use cases for modern artificial intelligence in medicine…
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: Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy Open
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majorit…
View article: De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa Open
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent de novo variants in the …
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: 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…
View article: A morphometric analysis of the retinal arterioles with adaptive optics imaging in <scp><i>RPE65</i></scp>‐associated retinal dystrophy after treatment with voretigene neparvovec
A morphometric analysis of the retinal arterioles with adaptive optics imaging in <span><i>RPE65</i></span>‐associated retinal dystrophy after treatment with voretigene neparvovec Open
Purpose To investigate the changes in retinal arterial architecture after treatment with voretigene neparvovec in patients with retinal dystrophy caused by bi‐allelic mutations in the RPE65 gene. Methods Sixteen eyes treated with voretigen…
View article: Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa Open
Rod and cone function measured objectively by CPC showed a different preservation between genotypes in RP. However, heterogeneity inside the same genotype was present. CPC data correlated with FST, but structural OCT parameters seem to be …
View article: Adaptive optics ophthalmoscopy in retinitis pigmentosa (<scp>RP</scp>): Typical patterns
Adaptive optics ophthalmoscopy in retinitis pigmentosa (<span>RP</span>): Typical patterns Open
We like to report on typical morphological findings in Retinitis pigmentosa (RP), based on 3 years clinical experience with the adaptive optics (AO) in the Clinics for Hereditary Retinal Degenerations at the Center for Ophthalmology, Tuebi…
View article: Central Visual Function and Genotype–Phenotype Correlations in <i>PDE6A</i>-Associated Retinitis Pigmentosa
Central Visual Function and Genotype–Phenotype Correlations in <i>PDE6A</i>-Associated Retinitis Pigmentosa Open
We conclude that the severity of the different disease-causing PDE6A mutations in humans with respect to central visual function may be ranked as follows: c.2053G>A/p.V685M in homozygous state (most severe) > c.998+1G>A/p.? in homozygous s…
View article: Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment Open
View article: Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa Open
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic …
View article: Clinical Phenotype and Course of <i>PDE6A</i>-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
Clinical Phenotype and Course of <i>PDE6A</i>-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial Open
Seventeen of the PDE6A variants found in these patients appeared to be novel. Regarding the clinical findings, disease was highly symmetrical between the right and left eyes and visual impairment was mild or moderate in 90% of patients, pr…
View article: The perception threshold of the panda illusion, a particular form of 2D pulse-width-modulated halftone, correlates with visual acuity
The perception threshold of the panda illusion, a particular form of 2D pulse-width-modulated halftone, correlates with visual acuity Open
View article: Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period Open
We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A cohort of 2,158 affected patients from 1,785 families diagn…
View article: Chromatic Pupil Campimetry Reveals Functional Defects in Exudative Age-Related Macular Degeneration with Differences Related to Disease Activity
Chromatic Pupil Campimetry Reveals Functional Defects in Exudative Age-Related Macular Degeneration with Differences Related to Disease Activity Open
With the combination of short recording time, objectiveness of the measurement and gaze-correction for fixation problems, this method presents a suitable complement to the currently used clinical functional tests of the macula.
View article: Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia Open
ClinicalTrials.gov Identifier: NCT02610582.
View article: Supplementary Material for: Clinical Protocols for the Evaluation of Rod Function
Supplementary Material for: Clinical Protocols for the Evaluation of Rod Function Open
This work presents a quick clinical protocol for dark-adapted chromatic (DAC) perimetry as well as a novel clinical tool, scotopic chromatic pupil campimetry (CPC). The goal of the study was to explore the applicability of these methods in…
View article: Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> Mutations
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> Mutations Open
The functional measurements presented in this study present a valid clinical progression marker in late-stage early onset retinitis pigmentosa caused by biallelic CRB1 mutations. Additionally, they can be used as outcome measures fo…
View article: Objective Measurement of Local Rod and Cone Function Using Gaze-Controlled Chromatic Pupil Campimetry in Healthy Subjects
Objective Measurement of Local Rod and Cone Function Using Gaze-Controlled Chromatic Pupil Campimetry in Healthy Subjects Open
Chromatic pupil campimetry provides information about the local rod and cone function of the human retina with distinct pattern of distributions in an objective manner.
View article: Efficacy and Safety of Retinal Gene Therapy Using Adeno-Associated Virus Vector for Patients With Choroideremia
Efficacy and Safety of Retinal Gene Therapy Using Adeno-Associated Virus Vector for Patients With Choroideremia Open
ClinicalTrials.gov identifier: NCT02671539.
View article: Objective Measurement of Functional Defects in Age-related Macular Degeneration by Pupil Campimetry
Objective Measurement of Functional Defects in Age-related Macular Degeneration by Pupil Campimetry Open
View article: Effects of Subretinal AAV8 Gene Therapy on Microperimetry in CNGA3 Achromatopsia Patients
Effects of Subretinal AAV8 Gene Therapy on Microperimetry in CNGA3 Achromatopsia Patients Open