Catherina H. Z. Li
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View article: Randomizing eyes or patients in clinical trials for Stargardt disease
Randomizing eyes or patients in clinical trials for Stargardt disease Open
View article: The Visual Acuity Course in Stargardt Disease
The Visual Acuity Course in Stargardt Disease Open
Visual acuity decline in Stargardt disease type 1 follows a nonlinear course, varying by age of onset. We found that a large sample size is required for visual acuity-based trials, which makes visual acuity an impractical primary end point…
View article: Progression of Atrophy as a Function of <i>ABCA4</i> Variants and Age of Onset in Stargardt Disease
Progression of Atrophy as a Function of <i>ABCA4</i> Variants and Age of Onset in Stargardt Disease Open
Atrophy growth rates vary among subgroups of patients with STGD1, depending on both specific mutations and age of onset. This pattern may have implications for the design of clinical trials for mutation-specific therapies.
View article: Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease Open
Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this r…
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: Study of Late-Onset Stargardt Type 1 Disease
Study of Late-Onset Stargardt Type 1 Disease Open
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
View article: Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Open
View article: Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype Open
View article: Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant Open
View article: Identification of a Complex Allele in <i>IMPG2</i> as a Cause of Adult-Onset Vitelliform Macular Dystrophy
Identification of a Complex Allele in <i>IMPG2</i> as a Cause of Adult-Onset Vitelliform Macular Dystrophy Open
We report a heterozygous complex allele in IMPG2 causative for adult-onset vitelliform macular dystrophy in two unrelated individuals with mild visual loss and bilateral vitelliform lesions. The predicted causal missense mutation c.3023G>A…
View article: Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants Open
View article: The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective Open
This study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the ABHD12 gene. A total of 15 patients from 12 differe…
View article: Systemic complement activation levels in Stargardt disease
Systemic complement activation levels in Stargardt disease Open
Purpose Preclinical research provides evidence for the complement system as a potential common pathway in Stargardt disease (STGD1) and age-related macular degeneration (AMD) leading to retinal pigment epithelium (RPE) loss. However, syste…
View article: Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls?
Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls? Open
Purpose Patients with pseudoxanthoma elasticum (PXE) develop calcification of Bruch's membrane (BM) and choroidal thinning, as well as calcification of intracranial arteries, leading to arterial stiffness. We investigated whether arterial …