Chronic progressive external ophthalmoplegia
| Chronic progressive external ophthalmoplegia | |
|---|---|
| Classification and external resources | |
| Specialty | ophthalmology |
| ICD-10 | H49.4 |
| ICD-9-CM | 378.72 |
| OMIM | 157640 |
| DiseasesDB | 29124 |
| eMedicine | oph/510 |
| MeSH | D017246 |
Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia (PEO), is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. It is often the only feature of , in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as part of a syndrome involving more than one part of the body, such as Kearns-Sayre syndrome. Occasionally CPEO may be caused by conditions other than mitochondrial diseases.
CPEO is a rare disease that may affect those of all ages, but typically manifests in the young adult years. CPEO is the most common manifestation of , occurring in an estimated two-thirds of all cases of mitochondrial myopathy. Patients typically present with ptosis (drooping eyelids). Other diseases like Graves' disease, myasthenia gravis and glioma that may cause an external ophthalmoplegia must be ruled out.
CPEO is a slowly progressing disease. It may begin at any age and progresses over a period of 5–15 years. The first presenting symptom of ptosis is often unnoticed by the patient until the lids droop to the point of producing a visual field defect. Often, patients will tilt the head backwards to adjust for the slowly progressing ptosis of the lids. In addition, as the ptosis becomes complete, the patients will use the frontalis (forehead) muscle to help elevate the lids. The ptosis is typically bilateral, but may be unilateral for a period of months to years before the fellow lid becomes involved.
Ophthalmoplegia or the inability/difficulty to move the eye is usually symmetrical. As such, double vision is sometimes a complaint of these patients. In fact, the progressive ophthalmoplegia is often unnoticed till decreased ocular motility limits peripheral vision. Often someone else will point out the ocular disturbance to the patient. Patients will move their heads to adjust for the lost of peripheral vision caused by inability to abduct or adduct the eye. All directions of gaze are affected, however, downward gaze appears to be best spared. This is in contrast to Progressive Supranuclear Palsy (PSP) which typically affects vertical gaze and spares horizontal gaze.
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