Progressive external ophthalmoplegia

From Wikipedia, the free encyclopedia

Progressive external ophthalmoplegia
Classification & external resources
ICD-10 H49.4
ICD-9 378.72
OMIM 157640
DiseasesDB 29124
eMedicine oph/510 

Progressive external ophthalmoplegia is a disorder of the mitochondria. It is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles (ophthalmoplegia) and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe.

Example of how progressive external ophthalmoplegia may be inherited in an autosomal recessive fashion.
Example of how progressive external ophthalmoplegia may be inherited in an autosomal recessive fashion.

It is usually diagnosed by neurologists. There is no proven treatment; experimental agents such as coenyzme Q10 may provide benefit.

v • d • e
Pathology of the eye (primarily H00-H59)

eyelid, lacrimal system and orbit: Stye - Chalazion - Blepharitis - Entropion - Ectropion - Lagophthalmos - Blepharochalasis - Ptosis - Xanthelasma

conjunctiva: Conjunctivitis - Pterygium - Subconjunctival hemorrhage

sclera, cornea, iris and ciliary body: Scleritis - Keratitis - Corneal ulcer - Snow blindness - Thygeson's superficial punctate keratopathy - Fuchs' dystrophy - Keratoconus - Keratoconjunctivitis sicca - Iritis - Uveitis

lens: Cataract

choroid and retina: Retinal detachment - Retinoschisis - Hypertensive retinopathy - Diabetic retinopathy - Retinopathy - Retinopathy of prematurity - Macular degeneration - Retinitis pigmentosa - Macular edema

ocular muscles, binocular movement, accommodation and refraction: Strabismus - Ophthalmoparesis - Progressive external ophthalmoplegia - Esotropia - Exotropia - Refractive error - Hyperopia - Myopia - Astigmatism - Anisometropia - Presbyopia

Visual disturbances and blindness: Amblyopia - Leber's congenital amaurosis - Scotoma - Color blindness - Achromatopsia - Nyctalopia - Blindness

Commonly associated infectious diseases: Trachoma Onchocerciasis

Other: Glaucoma - Floater - Leber's hereditary optic neuropathy - Red eye - Argyll Robertson pupil - Keratomycosis - Xerophthalmia - Aniridia

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