Mette Bertelsen
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View article: Interaction Between Glaucoma and Central Retinal Vein Occlusion in a Cohort Study
Interaction Between Glaucoma and Central Retinal Vein Occlusion in a Cohort Study Open
Objectives: To study the associations of central retinal vein occlusion (CRVO) with glaucoma and cataract before and after the onset of CRVO. Methods: This study included 439 fundus photographically verified CRVO cases and a 5:1 set of 219…
View article: Axial length, myopia progression, and myopic maculopathy in Stickler syndrome
Axial length, myopia progression, and myopic maculopathy in Stickler syndrome Open
Purpose We lack knowledge on the potentially progressive nature of and the prevalence of complications to myopia as a characteristic trait of Stickler syndrome. Methods This cross‐sectional study combines ophthalmic examination and medical…
View article: Beta-Blockers after Myocardial Infarction in Patients without Heart Failure
Beta-Blockers after Myocardial Infarction in Patients without Heart Failure Open
Among patients with a myocardial infarction and a left ventricular ejection fraction of at least 40%, beta-blocker therapy led to a lower risk of death or major adverse cardiovascular events than no beta-blocker therapy. (Funded by the Hea…
View article: Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy Open
Autosomal recessive IMPG2-retinal dystrophy is typically an early onset retinal dystrophy associated with poor visual acuity. Younger patients are more likely to benefit from intervention in future trials due to early macular involvement i…
View article: Novel Blood-Biomarkers to Detect Retinal Neurodegeneration and Inflammation in Diabetic Retinopathy
Novel Blood-Biomarkers to Detect Retinal Neurodegeneration and Inflammation in Diabetic Retinopathy Open
To investigate levels of specific plasma-biomarkers related to neurodegeneration and inflammation in patients with different chronic degenerative retinal diseases, using an ultrasensitive technology called ‘single molecule array’ (SiMoA). …
View article: Whole genome sequencing of 10 families with optic disc drusen
Whole genome sequencing of 10 families with optic disc drusen Open
We identified a list of candidate genes. Studies including larger ODD families are necessary to identify robust candidate genes.
View article: Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients
Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients Open
We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein (RP2) gene variants. L…
View article: Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen
Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen Open
Introduction Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration. In a recent study, we reported co-existing optic disc drusen (ODD) at 30%, a prevalence 15 times hi…
View article: Prevalence Screening for Familial Optic Disc Drusen: A Cross-Sectional Study
Prevalence Screening for Familial Optic Disc Drusen: A Cross-Sectional Study Open
Optic disc drusen (ODD) may present in multiple individuals and generations within a family, indicating hereditary predisposition. Individuals are often unaware of their ODD, and consequently, the prevalence of ODD within families remains …
View article: Phenotypic characteristics of Danish patients with achromatopsia
Phenotypic characteristics of Danish patients with achromatopsia Open
Purpose To describe the phenotype of Danish patients with genetically verified achromatopsia (ACHM) with special focus on signs of progression on structural or functional parameters, and possible genotype–phenotype correlations. Methods Fo…
View article: Genetic and Clinical Characterization of Danish Achromatopsia Patients
Genetic and Clinical Characterization of Danish Achromatopsia Patients Open
Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. New treatments are being developed, but the current evidence is still conflicting regardin…
View article: Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort
Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort Open
(1) Background/aims: To examine potential genetic modifiers of disease penetrance in PRPF31-associated retinitis pigmentosa 11 (RP11). (2) Methods: Blood samples from individuals (n = 37) with PRPF31 variants believed to be disease-causing…
View article: Mutations in<i>BCOR</i>, a co-repressor of<i>CRX/OTX2</i>, are associated with early-onset retinal degeneration
Mutations in<i>BCOR</i>, a co-repressor of<i>CRX/OTX2</i>, are associated with early-onset retinal degeneration Open
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-rep…
View article: Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen
Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen Open
We report a case of a pancreatic ductal adenocarcinoma (PDAC) presenting synchronously with a paraganglioma (PGL) in a Whipple reaction specimen. The patient was a 72-year-old female with a history of breast and vulvar cancer. The simultan…
View article: Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss Open
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher synd…
View article: Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa Open
Bi-allelic pathogenic variants in MERTK cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for MERTK, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has prove…
View article: Retinal Structure in<i>RPE65</i>-Associated Retinal Dystrophy
Retinal Structure in<i>RPE65</i>-Associated Retinal Dystrophy Open
We identified the presence of autofluorescence in half of our subjects, with foveal hypoplasia also noted in half of our cohort. EZW, and to a lesser extent EZA, were robust measures of retinal degeneration and represent valuable metrics t…
View article: A Missense Mutation in <i>RAB28</i> in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of <i>RAB28</i> to the Primary Cilium
A Missense Mutation in <i>RAB28</i> in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of <i>RAB28</i> to the Primary Cilium Open
The missense variant in RAB28 is classified as likely pathogenic with functional effect on protein localization. The combination of retinal dystrophy and PAP are well known from ciliopathies; however, more data are needed to finally conclu…
View article: Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study)
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study) Open
Background: Transcorneal electrical stimulation (TES) has been suggested as a possible treatment for retinitis pigmentosa (RP). Objective: To expand the safety assessment of repeated applications of an electrical current from a DTL-like el…
View article: Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy Open
Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of IRD. Molecular genetic diagnos…
View article: A family with bilateral symmetrical sectoral pigmentary retinal lesions – a 50‐year‐old case solved
A family with bilateral symmetrical sectoral pigmentary retinal lesions – a 50‐year‐old case solved Open
In 1970, three nonconsanguineous family members with bilateral, inferior, symmetrical sectoral pigmentary retinal bone spicules and corresponding superior visual field defects were reported in Acta Ophthalmologica (Fledelius & Simonsen 197…
View article: Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in<i>CEP290</i>
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in<i>CEP290</i> Open
Homozygous patients seem less severely affected compared to their compound-heterozygous peers. Improvement of visual function may occur in the early years of life, suggesting a time window for therapeutic intervention up to the approximate…
View article: Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes
Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes Open
Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of the ABCA4 locus in STGD1 patients identifies two expected disease-causing alleles in ∼75% of patients and only one m…
View article: Risk of depressive disorder following disasters and military deployment: systematic review with meta-analysis
Risk of depressive disorder following disasters and military deployment: systematic review with meta-analysis Open
Background Numerous studies describe the occurrence of post-traumatic stress disorder following disasters, but less is known about the risk of major depression. Aims To review the risk of depressive disorder in people surviving disasters a…