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Deze abstract is toegekend aan sessie BSA: Belgian Strabismological Association
TitelFrozen orbit
Abstract Nr.1042
DoelTo describe the genetic conditions leading to limitation of the movements of the external ocular muscles, also known as external ophthalmoplegia.
MethodesA systematic review of the literature, and of cases from the ophthalmic genetics clinics at the Ghent University Hospital.
ResultatenGenetic conditions leading to external ophthalmoplegia include Möbius syndrome, mitochondrial conditions such as progressive external ophthalmoplegia, Leigh disease and Kearns-Sayre syndrome, autosomal dominant optic atrophy with deafness, ptosis and progressive external ophthalmoplegia, Steinert myotonic dystrophy, spinocerebellar ataxia type 7, congenital fibrosis of the extraocular muscles (AD CFEOM1 & CFEOM3 and & AR CFEOM2).
ConclusieThe genetic conditions leading to external ophthalmoplegia are diverse and reflect very different mechanisms of disease.
Auteur 1
NaamLEROY
InitialenBP
InstituutDept of Ophthalmology & Ctr for Med Genetics, Ghent Univ Hosp & Div of Ophthalmology, CHOP
StadGhent & Philadelphia
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