Robert K. Koenekoop
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View article: RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs) Open
Summary Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the hig…
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: Amblyopic binocular imbalance quantified by the dichoptic contrast ordering test and dichoptic letters test
Amblyopic binocular imbalance quantified by the dichoptic contrast ordering test and dichoptic letters test Open
In amblyopia, abnormal binocular interactions lead to an overwhelming dominance of one eye. One mechanism implied in this imbalance is the suppression between the inputs from the two eyes. This interocular suppression involves two componen…
View article: Comparative analysis of <i>in-silico</i> tools in identifying pathogenic variants in dominant inherited retinal diseases
Comparative analysis of <i>in-silico</i> tools in identifying pathogenic variants in dominant inherited retinal diseases Open
Inherited retinal diseases (IRDs) are a group of rare genetic eye conditions that cause blindness. Despite progress in identifying genes associated with IRDs, improvements are necessary for classifying rare autosomal dominant (AD) disorder…
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View article: Elevated Plasma Complement Factors in<i>CRB1</i>-associated Inherited Retinal Dystrophies
Elevated Plasma Complement Factors in<i>CRB1</i>-associated Inherited Retinal Dystrophies Open
Objective To determine the profile of inflammation-related proteins and complement system factors in serum of CRB1 -associated inherited retinal dystrophies ( CRB1 -IRDs). Design A case-control study. Subjects, Participants, and/or Control…
View article: Systematic assessment of the contribution of structural variants to inherited retinal diseases
Systematic assessment of the contribution of structural variants to inherited retinal diseases Open
Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In th…
View article: Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis Open
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis…
View article: Systematic assessment of the contribution of structural variants to inherited retinal diseases
Systematic assessment of the contribution of structural variants to inherited retinal diseases Open
Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In th…
View article: Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery
Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery Open
ENGLISH SUMMARY Corneal blindness is a leading cause of visual impairment worldwide. The most common treatment is to replace the diseased cornea by standard corneal transplantation. In eyes at high risk of graft failure, the Boston keratop…
View article: Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis Open
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is c…
View article: Peroxisome Biogenesis Disorders in the Zellweger Spectrum: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review
Peroxisome Biogenesis Disorders in the Zellweger Spectrum: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review Open
Background Zellweger Spectrum Disorder (ZSD) is caused by bi-allelic defects in any of 13 PEX genes, resulting in failure to form functional peroxisomes. Individuals manifest a wide spectrum of clinical phenotypes and severity, but almost …
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: Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome Open
This study reports a cohort of patients with Alagille syndrome in which peripheral chorioretinal changes were more frequent than posterior embryotoxon, the most frequent ocular finding according to a number of previous studies. We propose …
View article: Tear film cytokine profiles of Boston keratoprosthesis patients with and without glaucoma
Tear film cytokine profiles of Boston keratoprosthesis patients with and without glaucoma Open
View article: Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma
Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma Open
TNF-α, IL-1β, FGF-basic, IFN-ɣ are elevated in tears of KPro patients with glaucoma and correlate with CDR and IOP. These results show, for the first time in humans, concordance with documented elevations of TNF-α and IL-1β in the murine K…
View article: LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED Open
Purpose: Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited retinal disease that often results in severe visual impairment or blindness in early childhood. Currently, there are no approved treatments, highlighting t…
View article: Noncoding mutation in <i>RPGRIP1</i> contributes to inherited retinal degenerations.
Noncoding mutation in <i>RPGRIP1</i> contributes to inherited retinal degenerations. Open
The results highlight the significance of the contribution of noncoding pathogenic variants to unsolved IRD cases.
View article: Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa Open
RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it replenishes the photo…
View article: Treatments for inherited retinal degenerations are coming to Canada: brief update on a new standard of care for inherited retinal degenerations
Treatments for inherited retinal degenerations are coming to Canada: brief update on a new standard of care for inherited retinal degenerations Open
View article: The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration
The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration Open
Recent literature has reported a higher occurrence of cognitive impairment among individuals with Age-related Macular Degeneration (AMD) compared to older adults with normal vision. This pilot study explored potential links between single …
View article: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa Open
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated in families lacking a molecular diagnosis. A refined locus for adRP on Chr17q22 (RP17) was delineated through genoty…
View article: Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy Open
Objectives No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one feature associate…
View article: Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy Open
Findings from this study suggest that, in patients with missense mutations in RPE65, functional assays of protein function can be performed to assess the pathogenicity of variants in both compound heterozygous and homozygous cases. Given t…
View article: Novel Incomplete Retinal Vascularization in a Joubert Syndrome patient and an AHI1 deletion.
Novel Incomplete Retinal Vascularization in a Joubert Syndrome patient and an AHI1 deletion. Open
View article: Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies
Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies Open
Our study indicates that SKP provides a viable alternative to traditional Goldmann perimetry in clinical trials or care involving both children and adults with IRDs.
View article: Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of <i>CACNA1F</i> ‐mediated inherited retinal disorders
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of <i>CACNA1F</i> ‐mediated inherited retinal disorders Open
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene…
View article: Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy Open
Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide-gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone function. However, a s…
View article: A Natural History Study of Visual Function in Patients with Usher Syndrome Type 1C.
A Natural History Study of Visual Function in Patients with Usher Syndrome Type 1C. Open
View article: Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration
Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration Open
We propose that there is a limited contribution of common genetic variants to variability in nAMD treatment response. Our results suggest that rare protein-altering variants in the C10orf88 and UNC93B1 genes are associated with a worse res…