Optic atrophy beginning in early childhood followed by adult-onset axonal neuropathy and mitochondrial myopathy without external ophthalmoplegia
was the main clinical features described in a Tunisian family carrying the novel MFN2 missense mutation c.629A> T (p.D210V).
Progressive External Ophthalmoplegia
:(Online Mendelian Inheritance in Man (OMIM) Database Numbers: Autosomal Dominant PEOA1:157640, PEOA3:609286, and PEOA4:610131 and Autosomal Recessive PEOB: 9258450)
Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia
. Br J OPhthalmol.
(f) CPEO, chronic progressive external ophthalmoplegia
; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy (37); TP, thymidine phosphorylase.
This family manifested dysarthria, dysphagia, external ophthalmoplegia
, limb weakness, hypophrenia, deafness, and visual deterioration, in an autosomal dominant inheritance.
Miller Fisher syndrome, internal and external ophthalmoplegia
after flu vaccination.
Exclusion criteria included weak Bell's phenomenon (less than 50% of normal), positive phenylephrine test, jaw winking phenomenon, blepharophimosis syndrome, systemic or myopathic disorders with secondary ptosis such as myotonic dystrophy, myasthenia gravis, chronic progressive external ophthalmoplegia
, and Graves' disease, history of intra or extra ocular and eyelid surgery, sharp or blunt trauma to the eyelids, eyelid tumors and scars and patients with vertical squint.
Duane's retraction syndrome, fibrosis of the EOMs, and Chronic Progressive External Ophthalmoplegia
have neurogenic and myogenic elements.
The A3243G mutation can have several different clinical manifestations, such as MEZAS , diabetes and hearing loss with or without macular-pattern retinal dystrophy [5,15,16], and chronic progressive external ophthalmoplegia
. The histologic and biochemical phenotype can be nonspecific.
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia
. Can J Neurol Sci 2011;38:119-23.
INTRODUCTION: Ptosis and external ophthalmoplegia
are characteristic features of Myotonic dystrophy and Chronic Progressive external ophthalmoplegia
(2,3) In this case report, we present full recovery of vincristine-associated bilateral ptosis and external ophthalmoplegia
after treatment with pyridoxine and pyridostigmine.