Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development
| Autor: | Suma P. Shankar, Terri L. Young, Reshmitha Fallurin, Tonya Watson, Deborah Orel-Bixler, Katherine A. Rauen, Prabhu Rv Shankar |
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| Rok vydání: | 2021 |
| Předmět: |
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 |
| Zdroj: | Ophthalmic Genetics. 43:48-57 |
| ISSN: | 1744-5094 1381-6810 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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