Different Phenotypes Represent Advancing Stages of <i>ABCA4</i>-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center

Wang, Yingwei; Sun, Wenmin; Zhou, Jing; Li, Xueqing; Jiang, Yi; Li, Shiqiang; Jia, Xiaoyun; Xiao, Xueshan; Ouyang, Jiamin; Wang, Yueye; Zhou, Lin; Long, Yuxi; Liu, Mengchu; Li, Yongyu; Zhen, Yi; Wang, Panfeng; Zhang, Qingjiong

doi:10.1167/iovs.63.5.28

Cited by 7 publications

(3 citation statements)

References 60 publications

(53 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In 7/18 (39%) of patients, the follow-up was 20 or more years. Even though there are descriptions of individual cases with a follow-up longer than 20 years [17,[26][27][28], all other published cohort studies on STGD1 patients had a shorter duration of follow-up, which ranged between 1 to 11 years [7][8][9]11,[13][14][15][16][17][26][27][28][29][30].…”

Section: Discussionmentioning

confidence: 99%

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study

Sajovic

Meglič

Fakin

et al. 2023

Genes

View full text Add to dashboard Cite

Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last exams, age at onset, Snellen decimal visual acuity (VA), electroretinography (ERG), and FAF images were evaluated. Patients were classified into four Fishman stages and three electroretinography groups, and areas of definitely decreased autofluorescence (DDAF) were measured. Patients were further substratified based on genotype, and phenotype-genotype correlations were performed. The median follow-up was 18 (range 10–26) years. The median yearly VA loss was 0.009 (range 0.002–0.071), while the median progression rate of the DDAF area was 0.354 (range 0.002–4.359) mm2 per year. Patients harbouring p.(Gly1961Glu) or p.(Asn1868Ile) allele had significantly slower DDAF area progression when compared to patients with other genotypes (0.07 mm2 vs. 1.03 mm2, respectively), as well as significantly later age at onset (20 years vs. 13 years, respectively). Results showed that structural and functional parameters, together with genotype, should be considered when counselling patients regarding prognosis and monitoring disease progression. Patients harbouring hypomorphic variants p.(Gly1961Glu) or p.(Asn1868Ile) presented with overall milder disease than patients with other genotypes.

show abstract

Section: Discussionmentioning

confidence: 99%

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study

Sajovic

Meglič

Fakin

et al. 2023

Genes

View full text Add to dashboard Cite

show abstract

“…[1][2][3] These conditions lead to progressive and irreversible visual impairment, and may even culminate in complete blindness. [4][5][6] Although the pathogenesis of retinal degenerative diseases remains largely unknown, many studies have revealed that photoreceptor apoptosis is the common pathological process in AMD and diverse genotypes of RP. [7][8][9][10] However, the current therapeutic approaches based on this process are not very effective.…”

Section: Introductionmentioning

confidence: 99%

“…Retinal degenerative diseases encompass a group of disorders with increasing global prevalence, among which retinitis pigmentosa (RP) and age‐related macular degeneration (AMD) are prominent examples 1–3 . These conditions lead to progressive and irreversible visual impairment, and may even culminate in complete blindness 4–6 . Although the pathogenesis of retinal degenerative diseases remains largely unknown, many studies have revealed that photoreceptor apoptosis is the common pathological process in AMD and diverse genotypes of RP 7–10 .…”

Section: Introductionmentioning

confidence: 99%

Circular RNA expression profile and functional analysis of circUvrag in light‐induced photoreceptor degeneration

Kong,

Ding,

Wang

et al. 2024

Clinical Exper Ophthalmology

View full text Add to dashboard Cite

BackgroundCircular RNAs (circRNAs) are implicated in retinal pathophysiology; however, their expression profiles and functions in photoreceptor apoptosis are largely unknown. We explored circRNA‐expression profiles and circUvrag (host gene: Uvrag, ultraviolet radiation resistance associated gene) function in light‐induced photoreceptor apoptosis.MethodsSprague–Dawley rats and 661 W photoreceptor cells were exposed to blue light to establish light‐induced photoreceptor degeneration. Differentially expressed circRNAs were identified using microarrays. Potential functions of dysregulated circRNAs were analysed using Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses. CircUvrag expression and localization were evaluated using quantitative RT‐PCR and fluorescence in situ hybridization, respectively. CircUvrag overexpression and knockdown were induced using a plasmid and a small interfering RNA, respectively, and retinal function and structure were assessed using scotopic electroretinography, haematoxylin–eosin staining, and TUNEL staining. Microglial migration was assessed using IBA1 immunostaining. The apoptosis ratio of photoreceptor cells in vitro was detected using flow cytometry.ResultsWe identified 764 differentially expressed circRNAs, which were potentially related with the development of retinal structures, including neurons, dendrites, and synapses, and might participate in nervous‐system pathophysiology. Light exposure enriched circUvrag in the cytoplasm of photoreceptors in the outer nuclear layer (ONL). CircUvrag knockdown decreased photoreceptor apoptosis and microglial migration to the ONL after light exposure, preserving ONL thickness and a‐wave amplitude. In vitro, circUvrag knockdown inhibited photoreceptor apoptosis, although circUvrag overexpression slightly promoted photoreceptor apoptosis.ConclusionsCircUvrag knockdown attenuated light‐induced photoreceptor apoptosis, and might be a potential target in retinal degeneration.

show abstract

Artificial Intelligence Applied in Higher Education: A Bibliometric Analysis

Gómez-Cano,

Sánchez-Castillo

2024

Information Systems Engineering and Management

View full text Add to dashboard Cite

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center

Cited by 7 publications

References 60 publications

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study

Circular RNA expression profile and functional analysis of circUvrag in light‐induced photoreceptor degeneration

Artificial Intelligence Applied in Higher Education: A Bibliometric Analysis

Contact Info

Product

Resources

About