Catherine A. Cukras
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View article: Quantification of Normative Human Choriocapillaris Measures Across the Macula
Quantification of Normative Human Choriocapillaris Measures Across the Macula Open
Normative AO-OCTA-based CC metrics can provide insight into ocular disease pathology.
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: Deep Learning Approaches to Predict Geographic Atrophy Progression Using Three-Dimensional OCT Imaging
Deep Learning Approaches to Predict Geographic Atrophy Progression Using Three-Dimensional OCT Imaging Open
Our study provides important insights on the utility of 3D OCT images for GA disease progression predictions.
View article: Validation of Deep Learning–Based Automatic Retinal Layer Segmentation Algorithms for Age-Related Macular Degeneration with 2 Spectral-Domain OCT Devices
Validation of Deep Learning–Based Automatic Retinal Layer Segmentation Algorithms for Age-Related Macular Degeneration with 2 Spectral-Domain OCT Devices Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: Automated Detection of Drusenoid Pigment Epithelial Detachments From Spectral-Domain Optical Coherence Tomography in Patients With AMD
Automated Detection of Drusenoid Pigment Epithelial Detachments From Spectral-Domain Optical Coherence Tomography in Patients With AMD Open
Automated detection and quantitation of high-risk features can facilitate screening patients for clinical-trial enrollment and could serve as an outcome metric [T1 (Translation-to-Humans) and T4 (Translation-to-Population-Health)].
View article: Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration:<i>HTRA1</i>/lncRNA<i>BX842242.1</i>dominates, with no evidence for Complement Cascade involvement
Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration:<i>HTRA1</i>/lncRNA<i>BX842242.1</i>dominates, with no evidence for Complement Cascade involvement Open
Age-related macular degeneration (AMD) is a multifactorial retinal disease with a large genetic risk contribution. Reticular pseudodrusen (RPD) is a sub-phenotype of AMD with a high risk of progression to late vision threatening AMD. In a …
View article: Biallelic Loss-of-Function Variants in <i>UBAP1L</i> and Nonsyndromic Retinal Dystrophies
Biallelic Loss-of-Function Variants in <i>UBAP1L</i> and Nonsyndromic Retinal Dystrophies Open
Importance Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the gene…
View article: Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans
Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans Open
This work reveals gaps in genomic research in African Americans with HEDs.
View article: Quantification of Human Photoreceptor–Retinal Pigment Epithelium Macular Topography with Adaptive Optics–Optical Coherence Tomography
Quantification of Human Photoreceptor–Retinal Pigment Epithelium Macular Topography with Adaptive Optics–Optical Coherence Tomography Open
Photoreceptors (PRs) and retinal pigment epithelial (RPE) cells form a functional unit called the PR-RPE complex. The PR-RPE complex plays a critical role in maintaining retinal homeostasis and function, and the quantification of its struc…
View article: Phase 2 Trial Evaluating Minocycline for Geographic Atrophy in Age-Related Macular Degeneration
Phase 2 Trial Evaluating Minocycline for Geographic Atrophy in Age-Related Macular Degeneration Open
Importance Existing therapies to slow geographic atrophy (GA) enlargement in age-related macular degeneration (AMD) have relatively modest anatomic efficacy, require intravitreal administration, and increase the risk of neovascular AMD. Ad…
View article: The qMini assay identifies an overlooked class of splice variants
The qMini assay identifies an overlooked class of splice variants Open
Splice variants are known to cause diseases by utilizing alternative splice sites, potentially resulting in protein truncation or mRNA degradation by nonsense-mediated decay. Splice variants are verified when altered mature mRNA sequences …
View article: <i>RPGR</i>: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15
<i>RPGR</i>: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15 Open
RPGR-related retinopathy should be considered for males presenting with retinal sheen, abnormal ellipsoid zone hyper-reflectivity, and cone or cone-rod dysfunction on ERG, and pursued with molecular testing. Our results have implications f…
View article: Deep learning-enabled volumetric cone photoreceptor segmentation in adaptive optics optical coherence tomography images of normal and diseased eyes
Deep learning-enabled volumetric cone photoreceptor segmentation in adaptive optics optical coherence tomography images of normal and diseased eyes Open
Objective quantification of photoreceptor cell morphology, such as cell diameter and outer segment length, is crucial for early, accurate, and sensitive diagnosis and prognosis of retinal neurodegenerative diseases. Adaptive optics optical…
View article: Investigations of Renal Function and Age-Related Macular Degeneration Phenotypes
Investigations of Renal Function and Age-Related Macular Degeneration Phenotypes Open
Bruch's membrane of the eye and the glomerular basement membrane of the kidney share physiologic similarities such that decreased renal function may demonstrate associations with AMD phenotypes.
View article: Deep Learning-Based Modeling of the Dark Adaptation Curve for Robust Parameter Estimation
Deep Learning-Based Modeling of the Dark Adaptation Curve for Robust Parameter Estimation Open
PURPOSE: This study investigates deep-learning (DL) sequence modeling techniques to reliably fit dark adaptation (DA) curves and estimate their key parameters in patients with age-related macular degeneration (AMD) to improve robustness an…
View article: Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging Open
Assessment of cones and RPE in retinal locations outside of the macular lesions reveals a pattern of cone and RPE disruption that appears to be gene dependent in VMD. These findings provide insight into the cellular pathogenesis of disease…
View article: Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome Open
Background/Aims To characterise the ocular manifestations of Williams-Beuren syndrome (WBS) and compare these to patients with isolated elastin mediated supravalvular aortic stenosis (SVAS). Methods Fifty-seven patients with a diagnosis of…
View article: Scotopic Contour Deformation Detection Reveals Early Rod Dysfunction in Age-Related Macular Degeneration With and Without Reticular Pseudodrusen
Scotopic Contour Deformation Detection Reveals Early Rod Dysfunction in Age-Related Macular Degeneration With and Without Reticular Pseudodrusen Open
A novel scotopic contour deformation task can provide unique information about rod dysfunction in participants with iAMD and RPD not observed with structural and other functional assessments. Rod dysfunction observed with scotopic contour …
View article: Early-Onset <i>TIMP3</i>-Related Retinopathy Associated With Impaired Signal Peptide
Early-Onset <i>TIMP3</i>-Related Retinopathy Associated With Impaired Signal Peptide Open
This study found that TIMP3 variants altering signal peptide function deviated from classic Sorsby fundus dystrophy both in phenotypic features and underlying mechanism. These results suggest atypical patient presentations are caused by TI…
View article: Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies Open
The retinal dystrophy phenotype associated with CDHR1 retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive CDHR…
View article: Single-cell–resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity
Single-cell–resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity Open
Significance Retinal degenerative diseases affect specific regions of the retinal pigment epithelium (RPE), suggesting the presence of functionally different RPE subpopulations. To identify these subpopulations in human eyes, we generated …