Heidi Stöhr
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View article: Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone–Rod Dystrophies
Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone–Rod Dystrophies Open
Objectives: To identify patient-reported key disease-related challenges of macular and cone–rod dystrophies (MDs/CRDs) in a large consecutive cohort of individuals with molecularly confirmed diagnoses. Methods: Out of the 281 patients cont…
View article: Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies
Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies Open
Patient-reported impact of macular and cone-rod dystrophies (MD/CRD) was assessed in a large consecutive cohort of individuals with molecularly confirmed diagnoses, aiming to identify key disease-related disadvantages. Out of 281 patients …
View article: Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp)
Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp) Open
Objective: The clinical presentation of inherited retinal dystrophies associated with pathogenic variants in PRPH2 is highly variable. Here we present bilateral sector macular dystrophy as a novel clinical phenotype. Methods and analysis: …
View article: Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa
Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa Open
Objectives: To evaluate the patient-reported impact of retinitis pigmentosa (RP) in a large patient cohort to identify relevant disease-related disadvantages as key aspects for the improvement of ophthalmic and social care. Methods: Consec…
View article: Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing
Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing Open
Inherited retinal diseases are clinically and genetically highly heterogeneous conditions with many phenotypic overlaps, syndromic presentations and atypical manifestations. This article is a narrative review that offers an overview of the…
View article: Focus on degenerative retinal disorders
Focus on degenerative retinal disorders Open
View article: 18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies Open
Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants …
View article: Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy
Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy Open
Importance Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4 -associated retinopathy. Objective To investigate whether women are overrepresented among individuals with ABCA4 -associated …
View article: Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes Open
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-…
View article: Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease
Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease Open
The link between mitochondria and major depressive disorder (MDD) is increasingly evident, underscored both by mitochondria’s involvement in many mechanisms identified in depression and the high prevalence of MDD in individuals with mitoch…
View article: Mitochondrial and cellular function in fibroblasts, induced neurons, and astrocytes derived from case study patients: insights into major depression as a mitochondria-associated disease
Mitochondrial and cellular function in fibroblasts, induced neurons, and astrocytes derived from case study patients: insights into major depression as a mitochondria-associated disease Open
Background: The link between mitochondria and major depressive disorder (MDD) is increasingly evident, underscored both by mitochondria’s involvement in many mechanisms identified in depression, and high prevalence of MDD in individuals wi…
View article: Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability Open
View article: Mitochondrial and cellular function in fibroblasts and reprogrammed neural cells: insights into major depression as a mitochondria-associated disease
Mitochondrial and cellular function in fibroblasts and reprogrammed neural cells: insights into major depression as a mitochondria-associated disease Open
The neurobiological underpinnings of major depressive disorder (MDD) remain still elusive. Meanwhile, mitochondria and energy metabolism turn into focus as relevant pathomechanisms of MDD. To gain further insight on the role of mitochondri…
View article: CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis Open
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating variant in CEP162, a centrosome a…
View article: Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations
Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations Open
Inherited retinal diseases can result from various genetic defects and are one of the leading causes for blindness in the working-age population. The present study aims to provide a comprehensive description of changes in retinal structure…
View article: CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis Open
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We show that homozygosity for a truncating variant in CEP162, a centrosome an…
View article: Wide-field optical coherence tomography in ABCA4-associated inherited retinal dystrophies
Wide-field optical coherence tomography in ABCA4-associated inherited retinal dystrophies Open
Aim: With a need to expand the monitoring options in therapeutic clinical trials, we evaluated the additional information provided by wide-field optical coherence tomography (W-OCT) compared to conventional macular volume scan OCT (M-OCT) …
View article: Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene Open
Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, …
View article: Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease
Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease Open
This study found an imbalance in observed sex ratio among patients harboring a mild ABCA4 allele, which concerns approximately 25% of all patients with STGD1, suggesting that STGD1 should be considered a polygenic or multifactorial disease…
View article: Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion
Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion Open
View article: Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics Open
View article: Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics Open
Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs and data storage requirements hamper its large-scale use to (r…
View article: Alterations in microvilli on the surface of retinal Pigment Epithelial (RPE) cells in Sorsby’s Fundus Dystrophy
Alterations in microvilli on the surface of retinal Pigment Epithelial (RPE) cells in Sorsby’s Fundus Dystrophy Open
View article: Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides Open
View article: Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study
Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study Open
Using OCT-A, comparison of choroidal flow signal within and outside the area of RPE atrophy revealed distinct differences between STGD1 and AMD, potentially implicating a differential role of the choroid in the pathogenesis of RPE atrophy …
View article: Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease Open
Although many factors contribute to the phenotype of STGD1 patients, the expression and residual activity of ABCA4 mutants play a major role in determining the disease severity of STGD1 patients.
View article: Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome Open
Targeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.
View article: Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions Open
A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negati…
View article: Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs
Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs Open
PURPOSE. Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrum and to assess effects of selected deep…
View article: Reducing <scp>T</scp>imp3 or vitronectin ameliorates disease manifestations in <scp>CADASIL</scp> mice
Reducing <span>T</span>imp3 or vitronectin ameliorates disease manifestations in <span>CADASIL</span> mice Open
Objective CADASIL is a genetic paradigm of cerebral small vessel disease caused by NOTCH3 mutations that stereotypically lead to the extracellular deposition of NOTCH3 ectodomain (Notch3 ECD ) on the vessels. TIMP3 and vitronectin are 2 ex…