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Type de présentation	E-poster
Titre	Whole-exome screening for primary congenital glaucoma in Lebanon

But	Mutations were previously identified in the CYP1B1 gene in six out of 18 Lebanese families (33%) with primary congenital glaucoma (PCG). The purpose of this study is to determine the frequency and type of pathogenic mutations in other genes and compare to other populations using whole-exome sequencing and perform genotype–phenotype correlations.
Méthodes	Twelve PCG patients previously negative for CYP1B1/MYOC mutations were subjected to whole-exome sequencing. Targeted screening for glaucoma-associated genes was performed. Clinical correlations were established as to severity of disease presentation, course, and visual outcomes.
Résultats	Six mutations in known PCG-causing genes were identified in five patients: homozygous mutations in CYP1B1 (p.R368G), LTBP2 (p.E1013G), and TEK (p.T693I), and heterozygous mutations in FOXC1 (p.Q92*), TEK (c.3201-1 G>A), ANGPT1 (p.K186N), and CYP1B1 (p.R368G). Potentially damaging variants were noted in several candidate genes. Except for FOXC1 mutations, all genetic variants described here are novel. Intra-ocular pressure and final optic nerve cup-to-disc ratio were highest in the patient with three mutations in LTBP2/TEK/ANGPT1 genes.
Conclusion	This study provides new data on the spectrum of mutations of PCG in Lebanon. This highlights the genetic heterogeneity of the Lebanese population, noted for high rates of consanguinity in 50% in this cohort.
Conflit d'intérêt	Non
Détails conflits d'intérêt	None

Auteurs 1

Nom	WEHBI
Initiales	Z
Institut	American University of Beirut
Ville	Beirut, Lebanon

Auteurs 2

Nom	Makhoul
Initiales	N
Institut	American University of Beirut
Ville	Beirut, Lebanon

Auteurs 3

Nom	El Hadi
Initiales	D
Institut	American University of Beirut
Ville	Beirut, Lebanon

Auteurs 4

Nom	Noureddin
Initiales	B
Institut	American University of Beirut
Ville	Beirut, Lebanon

Auteurs 5

Nom	Boustany
Initiales	RM
Institut	American University of Beirut
Ville	Beirut, Lebanon

Auteurs 6

Nom	Al-Haddad
Initiales	C
Institut	American University of Beirut
Ville	Beirut, Lebanon