Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review

Vrabič, N.; Fakin, A.; Tekavčič Pompe, M.

doi:10.1016/j.jfo.2024.104232

Journal Français d'Ophtalmologie

2024

DOI: 10.1016/j.jfo.2024.104232

|View full text |Cite

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review

N. Vrabič,

A. Fakin,

M. Tekavčič Pompe

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 48 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype

Esteve-Garcia,

Sau,

Padró-Miquel

et al. 2024

Genes

View full text Add to dashboard Cite

Background/Objectives: Biallelic pathogenic variants in the CEP290 gene are typically associated with severe, early-onset inherited retinal dystrophies (IRDs) in both syndromic and non-syndromic forms. This study explores the phenotypic variability of non-syndromic IRDs associated with CEP290 variants, focusing on two siblings with biallelic variants, one of whom exhibits a remarkably mild phenotype, thereby expanding the clinical spectrum. Methods: Whole-exome sequencing (WES) and mRNA analysis were performed to identify and characterize CEP290 variants in the siblings. Comprehensive ophthalmologic evaluations assessed retinal function and disease progression. Results: Two CEP290 variants, a frameshift (c.955del, p.(Ser319LeufsTer16)) and a missense (c.5777G>C, p.(Arg1926Pro)), were identified in trans in both siblings. Despite sharing the same genetic variants, the sister exhibited significantly preserved retinal function, while the brother presented with a more severe, progressive retinal dystrophy. Conclusions: This study broadens the phenotypic spectrum of non-syndromic CEP290-related IRDs, demonstrating variability in disease severity ranging from mild to severe. These findings highlight the importance of personalized monitoring and tailored management strategies based on individual clinical presentations of CEP290-related IRDs.

show abstract

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype

Esteve-Garcia,

Sau,

Padró-Miquel

et al. 2024

Genes

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review

Cited by 1 publication

References 48 publications

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype

Contact Info

Product

Resources

About