THE BELGIAN OPHTHALMIC ASSOCIATIONS
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| Type presentatie | E-poster |
| Titel | Whole-exome screening for primary congenital glaucoma in Lebanon |
| Doel | 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. |
| Methodes | 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. |
| Resultaten | 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. |
| Conclusie | 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. |
| Belangenverstrengeling | Nee |
| Details verstrengelde belangen | None |
Auteurs 1
| Naam | WEHBI |
| Initialen | Z |
| Instituut | American University of Beirut |
| Stad | Beirut, Lebanon |
Auteurs 2
| Naam | Makhoul |
| Initialen | N |
| Instituut | American University of Beirut |
| Stad | Beirut, Lebanon |
Auteurs 3
| Naam | El Hadi |
| Initialen | D |
| Instituut | American University of Beirut |
| Stad | Beirut, Lebanon |
Auteurs 4
| Naam | Noureddin |
| Initialen | B |
| Instituut | American University of Beirut |
| Stad | Beirut, Lebanon |
Auteurs 5
| Naam | Boustany |
| Initialen | RM |
| Instituut | American University of Beirut |
| Stad | Beirut, Lebanon |
Auteurs 6
| Naam | Al-Haddad |
| Initialen | C |
| Instituut | American University of Beirut |
| Stad | Beirut, Lebanon |