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Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development
- Source :
- Ophthalmic Genetics. 43:48-57
- Publication Year :
- 2021
- Publisher :
- Informa UK Limited, 2021.
-
Abstract
- Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants inVisual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboringFifty-six molecularly diagnosed CS individuals including 34 females and 22 males, ages ranging from 0.5 to 37 years were enrolled. The most common ophthalmic manifestations in the cross-sectional study were lack of stereopsis (96%), refractive errors (83%), strabismus (72%), nystagmus (69%), optic nerve hypoplasia or pallor (55%) and ptosis (13.7%) with higher prevalence than in the retrospective data (refractive errors (41%), strabismus (44%), nystagmus (26%), optic nerve hypoplasia or pallor (7%) and ptosis (11%)). Visual acuities were found to ranged from 20/25 to 20/800 and contrast sensitivity from 1.6% to 44%.Majority of individuals with CS have refractive errors, strabismus, nystagmus, absent stereopsis, and optic nerve abnormalities suggesting that
- Subjects :
- Male
Eye Manifestations
Germline
Costello syndrome
medicine
Humans
Optic Nerve Hypoplasia
Pallor
HRAS
Strabismus
Genetics (clinical)
Retrospective Studies
Optic nerve hypoplasia
business.industry
Costello Syndrome
Refractive Errors
medicine.disease
Ras pathway
Developmental disorder
Ophthalmology
Cross-Sectional Studies
Pediatrics, Perinatology and Child Health
Quality of Life
Cancer research
Female
business
Subjects
Details
- ISSN :
- 17445094 and 13816810
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Ophthalmic Genetics
- Accession number :
- edsair.doi.dedup.....c0917656e1b57f2902d2216339baab05