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Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development
Suma P Shankar1,2, Reshmitha Fallurin3, Tonya Watson4
1Department of Pediatrics, University of California Davis, Sacramento, California, USA.
Ophthalmic Genetics
|October 6, 2021
Summary
Costello syndrome, caused by HRAS variants, frequently causes ophthalmic issues like refractive errors and strabismus. Early eye exams are crucial for managing vision problems in affected individuals.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Costello syndrome (CS) is a multisystem disorder linked to germline pathogenic variants in the HRAS gene.
- These variants disrupt the Ras pathway, impacting development.
Purpose of the Study:
- To systematically characterize ophthalmic manifestations in individuals with Costello syndrome.
- To understand the role of Ras signal transduction in ocular development.
- To guide ophthalmic care for CS patients.
Main Methods:
- Evaluated visual function, ocular features, and genotype/phenotype correlations in CS individuals with HRAS variants.
- Utilized cross-sectional and retrospective study designs.
- Recruited participants through the Costello Syndrome Family Network (CSFN) from 2007-2020.
Main Results:
- Fifty-six CS individuals (0.5-37 years) were enrolled.
- Common ophthalmic issues included lack of stereopsis (96%), refractive errors (83%), strabismus (72%), nystagmus (69%), and optic nerve abnormalities (55%).
- HRAS variants included p.G12S (84%), p.G13C (7%), and others.
Conclusions:
- HRAS and the Ras pathway are vital for visual system development, as evidenced by common ophthalmic issues in CS.
- Conditions like ptosis, refractive errors, and strabismus are treatable.
- Early ophthalmic evaluation is essential to prevent vision impairment and enhance quality of life in CS individuals.
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