Invest Ophthalmol Vis Sci
August 2025
Purpose: To investigate the clinical manifestations and visual outcomes of leukemic retinopathy and optic neuropathy (LRON) in patients with acute leukemia.
Methods: We recruited 276 patients with acute leukemia, 55 of whom had LRON. The ophthalmic measurements, treatment courses, laboratory data, and molecular profiling were retrospectively collected.
Retinal ganglion cell degeneration is the main cause of irreversible vision loss in optic neuropathies. Pigment epithelium-derived factor (PEDF) and its smaller peptide components (44-mer and 17-mer) have shown neuroprotective effects. In this study, using a stepwise protocol we investigated their effects on human-induced pluripotent stem cell differentiation to retinal ganglion cells.
View Article and Find Full Text PDFBackground: Ophthalmological manifestations in children with Down syndrome remain significantly underdiagnosed, particularly in Asian populations. This study aimed to investigate the prevalence and characteristics of ophthalmic disorders in Taiwanese children with Down syndrome, analyze their refractive changes over time, and compare findings with existing research across diverse ethnic populations.
Methods: Comprehensive ophthalmologic examinations were conducted on 148 Taiwanese children with Down syndrome, documenting age, sex, medical history, ocular alignment, visual acuity, and cycloplegic refraction.
Invest Ophthalmol Vis Sci
April 2025
Purpose: This study documents the natural disease progression and genotype-phenotype correlation in RPGR-related retinitis pigmentosa (RP) in the Taiwanese population.
Methods: A retrospective analysis was conducted on individuals with molecularly confirmed RPGR-related disease-causing variant(s). Demographics, best-corrected visual acuity (BCVA), spherical equivalent (SE), fundus autofluorescence, and optical coherence tomography were assessed.
Ann Emerg Med
April 2025
Background: To elucidate the relationship between inherited retinal disease, visual acuity and refractive error development in Asian patients.
Subjects: Five hundred phakic eyes with refractive data were analysed in this retrospective cohort. Diseases were categorized by clinical phenotypes, and the prevalent genotypes identified in the Taiwan Inherited Retinal Degeneration Project were analysed.
Numerous evidence suggests coronavirus disease 2019 (COVID-19) potentially triggers demyelinating diseases, inclusive of multiple sclerosis (MS), and acute disseminated encephalomyelitis (ADEM), and various mechanisms have been proposed. We report a 42-year-old male presented with bilateral optic neuritis and encephalopathy, 2 weeks following COVID-19 infection. He denied any history or family history of neurological and ocular diseases.
View Article and Find Full Text PDFOrphanet J Rare Dis
June 2024
Background: Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous studies. This study provided a deeper understanding of the detailed clinical features using multimodal imaging, genetic spectrum, and genotype-phenotype correlations of USH2A-related retinal dystrophies in Taiwan.
Results: In our cohort, the mean age at first visit was 47.
Background: To identify genotypes associated with neovascular age-related macular degeneration (nAMD) and investigate the associations between genotype variations and anti-vascular endothelial growth factor (VEGF) treatment response.
Methods: This observational, retrospective, case series study enrolled patients diagnosed with nAMD who received anti-VEGF treatment in National Taiwan University Hospital with at least one-year follow-up between 2012 and 2020. A genome-wide association study (GWAS) was conducted on enrolled patients and controls.
The diagnosis of inherited retinal degeneration (IRD) is challenging owing to its phenotypic and genotypic complexity. Clinical information is important before a genetic diagnosis is made. Metabolomics studies the entire picture of bioproducts, which are determined using genetic codes and biological reactions.
View Article and Find Full Text PDFIntroduction: To evaluate the efficacy and safety of myopia control using a multifocal soft contact lens designed with high peripheral add power in schoolchildren.
Methods: This 1-year multi-center, prospective, randomized, double-blind, controlled study enrolled myopic schoolchildren aged 6-15 years with refractive errors between - 1.0 D and - 10.
Angelman syndrome, a severe neurodevelopmental disorder, is primarily caused by mutations or deletions of maternally inherited ubiquitin protein ligase E3A (UBE3A). Activation of the silenced paternal copy of UBE3A can occur with pharmacological perturbation; however, an environmental approach has not been examined. Here, we found Ube3a is highly expressed in embryonic and early neonatal mouse retina and is maternally-, but not paternally-, expressed in ganglion cells, amacrine cells, and horizontal cells.
View Article and Find Full Text PDFThe cause of trigger fingers remains uncertain. High lipid levels in the blood may reduce blood supply to the distal fingers and promote inflammation. We aimed to explore the association between hyperlipidemia and trigger finger.
View Article and Find Full Text PDFMult Scler Relat Disord
July 2023
Background: Optic neuritis (ON) is an inflammatory disease of optic nerve. The distinct etiologies of ON significantly influence its clinical manifestation, neuroimaging findings, and visual outcomes. However, the clinical characteristics might be influenced by the racial differences.
View Article and Find Full Text PDFPrecise genome manipulation in specific cell types and subtypes in vivo is crucial for neurobiological research because of the cellular heterogeneity of the brain. Site-specific recombinase systems in the mouse, such as Cre-loxP, improve cell type-specific genome manipulation; however, undesirable expression of cell type-specific Cre can occur. This could be due to transient expression during early development, natural expression in more than one cell type, kinetics of recombinases, sensitivity of the Cre reporter, and disruption in cis-regulatory elements by transgene insertion.
View Article and Find Full Text PDFHuan Jing Ke Xue
February 2023
In recent years, the excessive application of nitrogen and phosphorus fertilizers has caused serious pollution and eutrophication, especially in paddy fields. Accordingly, a two-year (2018-2019) study was conducted at a rice paddy field under different fertilizer application rates and straw mulching in Chengdu Plain. N and P losses through the rainfall and surface runoff in the paddy field were measured under natural rainfall conditions.
View Article and Find Full Text PDFThis study investigated the impact of retinal fluid tolerance on retinal thickness and visual acuity in patients with neovascular age-related macular degeneration after 18 months of treatment using intravitreal aflibercept. This retrospective study was based on the medical records of 90 eyes presenting persistent or recurrent retinal fluid retention after 3 months of aflibercept loading injections. We defined the fluid tolerance ratio as the sum of fluid-tolerance duration divided by the total duration of retinal fluid observed throughout the follow-up period.
View Article and Find Full Text PDFBackground: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by mutations in NOTCH3, is the most common cause of hereditary cerebral small vessel disease. Whether it will involve systemic vasculopathy such as retinal vessel remains unknown. Optical coherence tomography angiography (OCT-A) is a noninvasive technique for visualising retinal blood flow.
View Article and Find Full Text PDFThe pathognomonic hallmark of Parkinson's disease (PD), α-synuclein, has been observed in the retina of PD patients. We investigated whether biomarkers in the tears and retinal microvascular changes associate with PD risk and progression. This prospective study enrolled 49 PD patients and 45 age-matched healthy controls.
View Article and Find Full Text PDFJ Neuroophthalmol
December 2023
Purpose: To demonstrate the changes in the retinal nerve fiber layer (RNFL) after orbital decompression for thyroid eye disease (TED).
Methods: We retrospectively enrolled 52 surgical TED patients, 30 nonsurgical TED patients, and 30 control subjects. Five surgical TED eyes with disc edema were excluded.
Superior segmental optic nerve hypoplasia (SSONH) is a congenital condition characterized by developmental abnormalities of the superior optic disc and an underappreciated differential diagnosis for glaucoma. The reported prevalence is less than 1%, although likely underestimated due to the difficulties with diagnosis. The exact pathophysiology of SSONH remains elusive, but a mechanism involving developmental attrition of retinal ganglion cells has been proposed, and maternal diabetes is recognized as a major risk factor.
View Article and Find Full Text PDFBiomedicines
January 2022
Optic neuritis, inflammation of the optic nerve, can cause visual impairment through retinal nerve fiber layer (RNFL) degeneration. Optical coherence tomography could serve as a sensitive noninvasive tool for measuring RNFL thickness and evaluating the neuroprotective effects of treatment. We conducted a meta-analysis to compare RNFL loss between novel add-on treatments and corticosteroid therapy at least 3 months after acute optic neuritis.
View Article and Find Full Text PDFTransl Vis Sci Technol
December 2021
Purpose: The purpose of this study was to investigate the correlations between peripapillary choroidal thickness (PCT) and nonarteritic ischemic optic neuropathy (NAION) by using semiautomated optic coherence tomography (OCT).
Methods: A total of 35 NAION eyes, 29 unaffected fellow eyes, and 40 eyes from an age-matched control group were recruited. Enhanced-depth imaging OCT was performed after the resolution of disc edema.