THE BELGIAN OPHTHALMIC ASSOCIATIONS
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This abstract is assigned to session BSA: Belgian Strabismological Association
| Title | Frozen orbit |
| Abstract Nr. | 1042 |
| Purpose | To describe the genetic conditions leading to limitation of the movements of the external ocular muscles, also known as external ophthalmoplegia. |
| Methods | A systematic review of the literature, and of cases from the ophthalmic genetics clinics at the Ghent University Hospital. |
| Results | Genetic 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). |
| Conclusion | The genetic conditions leading to external ophthalmoplegia are diverse and reflect very different mechanisms of disease. |
Authors 1
| Last name | LEROY |
| Initials | BP |
| Department | Dept of Ophthalmology & Ctr for Med Genetics, Ghent Univ Hosp & Div of Ophthalmology, CHOP |
| City | Ghent & Philadelphia |