Version 1
: Received: 29 October 2024 / Approved: 29 October 2024 / Online: 29 October 2024 (13:11:34 CET)
How to cite:
Esteve-Garcia, A.; Aguilera, C.; Sau, C.; Padró-Miquel, A.; Català-Mora, J.; Cobos, E. Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild Phenotype. Preprints2024, 2024102317. https://doi.org/10.20944/preprints202410.2317.v1
Esteve-Garcia, A.; Aguilera, C.; Sau, C.; Padró-Miquel, A.; Català-Mora, J.; Cobos, E. Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild Phenotype. Preprints 2024, 2024102317. https://doi.org/10.20944/preprints202410.2317.v1
Esteve-Garcia, A.; Aguilera, C.; Sau, C.; Padró-Miquel, A.; Català-Mora, J.; Cobos, E. Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild Phenotype. Preprints2024, 2024102317. https://doi.org/10.20944/preprints202410.2317.v1
APA Style
Esteve-Garcia, A., Aguilera, C., Sau, C., Padró-Miquel, A., Català-Mora, J., & Cobos, E. (2024). Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild Phenotype. Preprints. https://doi.org/10.20944/preprints202410.2317.v1
Chicago/Turabian Style
Esteve-Garcia, A., Jaume Català-Mora and Estefania Cobos. 2024 "Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with Mild Phenotype" Preprints. https://doi.org/10.20944/preprints202410.2317.v1
Abstract
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 highlights the phenotypic variability of CEP290-related non-syndromic IRDs, focusing on two siblings with biallelic CEP290 variants. One sibling presents with a milder phenotype, expanding the known spectrum of CEP290-related IRDs and emphasizing the importance of personalized clinical monitoring; Methods: Whole-exome sequencing (WES) was used to identify CEP290 pathogenic variants in the siblings. Comprehensive ophthalmologic evaluations were performed to assess the severity and progression of retinal degeneration; Results: Both siblings were found to carry compound heterozygous pathogenic variants in CEP290, inherited in trans. Clinical evaluations revealed significantly preserved retinal function in the sister, whereas the brother exhibited a more aggressive and progressive retinal dystrophy; Conclusions: This study expands the phenotypic spectrum of non-syndromic CEP290-related IRDs, demonstrating that biallelic CEP290 variants can result in a wide range of severity, from mild to severe. These findings highlight the need for personalized monitoring and tailored management strategies in CEP290-related IRDs.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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