ophthalmology-2016_posters-accepted-abstracts

17 / 37

Page 93
Notes:
conferenceseries.com
Ophthalmology 2016
November 21-23, 2016
November 21-23, 2016 Dubai, UAE
10th International Conference on
Clinical & Experimental Ophthalmology
Volume 7 Issue 9 (Suppl) J Clin Exp Ophthalmol
ISSN: 2155-9570 JCEO, an open access journal
Amani Al Bakri et al., J Clin Exp Ophthalmol 2016, 7:9(Suppl)
Congenital ptosis, scoliosis and malignant hyperthermia susceptibility in siblings with recessive RYR1
mutations
Amani Al Bakri, Mohammad Karaoui, Fowzan S Alkuraya and Arif O Khan
King Khaled Eye Specialist Hospital, KSA
The study aims to identify those children with ptosis and who are the candidates for ophthalmic surgery; who might harbor
RYR1 mutations, because intraoperative malignant hyperthermia is potentially lethal. We report for the first time congenital
ptosis as the only ophthalmic findings in 2 siblings with scoliosis and underlying recessive RYR1 mutations. Malignant hyperthermia
susceptibility is a rare pharmacogenic disorder of skeletal muscle calcium regulation caused by mutations in the skeletal muscle
ryanodine receptor 1 (RYR1) gene. It is important to identify those children who are candidates for ophthalmic surgery, who might
harbor RYR1 mutations.
Biography
Amani Al Bakri has completed her Ophthalmology Residency training in King Khaled Eye Specialist Hospital, Saudi Arabia. Currently, she is in her final year of
Fellowship in Pediatric Ophthalmology and Strabismus, published few papers and is looking forward to publish more in ocular genetic field.