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