Imperial College London
Portrait Picture

Dr Sek-Shir Cheong

Faculty of Medicine, National Heart & Lung Institute

Research Associate
 
 
 
//

Contact

 

sek-shir.cheong

 
 
//

Location

 

Desk 10Sir Alexander Fleming BuildingSouth Kensington Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Dudakova:2021:10.1111/aos.15022,
author = {Dudakova, L and Tuft, S and Cheong, S and Skalicka, P and Jedlickova, J and Fichtl, M and Hlozanek, M and Filous, A and Vaneckova, M and Vincent, AL and Hardcastle, AJ and Davidson, AE and Liskova, P},
doi = {10.1111/aos.15022},
journal = {Acta Ophthalmologica},
title = {Novel diseasecausing variants and phenotypic features of Xlinked megalocornea},
url = {http://dx.doi.org/10.1111/aos.15022},
year = {2021}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - PurposeThe aim of the study was to describe the phenotype and molecular genetic causes of X-linked megalocornea (MGC1). We recruited four British, one New Zealand, one Vietnamese and four Czech families.MethodsAll probands and three female carriers underwent ocular examination and Sanger sequencing of the CHRDL1 gene. Two of the probands also had magnetic resonance imaging (MRI) of the brain.ResultsWe identified nine pathogenic or likely pathogenic and one variant of uncertain significance in CHRDL1, of which eight are novel. Three probands had ocular findings that have not previously been associated with MGC1, namely pigmentary glaucoma, unilateral posterior corneal vesicles, unilateral keratoconus and unilateral Fuchs heterochromic iridocyclitis. The corneal diameters of the three heterozygous carriers were normal, but two had abnormally thin corneas, and one of these was also diagnosed with unilateral keratoconus. Brain MRI identified arachnoid cysts in both probands, one also had a neuroepithelial cyst, while the second had a midsagittal neurodevelopmental abnormality (cavum septum pellucidum et vergae).ConclusionThe study expands the spectrum of pathogenic variants and the ocular and brain abnormalities that have been identified in individuals with MGC1. Reduced corneal thickness may represent a mild phenotypic feature in some heterozygous female carriers of CHRDL1 pathogenic variants.
AU  - Dudakova,L
AU  - Tuft,S
AU  - Cheong,S
AU  - Skalicka,P
AU  - Jedlickova,J
AU  - Fichtl,M
AU  - Hlozanek,M
AU  - Filous,A
AU  - Vaneckova,M
AU  - Vincent,AL
AU  - Hardcastle,AJ
AU  - Davidson,AE
AU  - Liskova,P
DO  - 10.1111/aos.15022
PY  - 2021///
SN  - 1755-375X
TI  - Novel diseasecausing variants and phenotypic features of Xlinked megalocornea
T2  - Acta Ophthalmologica
UR  - http://dx.doi.org/10.1111/aos.15022
UR  - https://onlinelibrary.wiley.com/doi/10.1111/aos.15022
ER  -
Download