[A familial case of chronic progressive external ophthalmoplegia associated with mitochondrial disease].
Mitochondrial myopathies are rare hereditary diseases that affect the energy functions of the mitochondria. Clinical manifestations are variable and sometimes multisystemic. Progressive external ophthalmoplegia constitutes the most frequent clinical form. Unfortunately, the diagnosis and the treatment of these mitochondrial abnormalities stay, today, even difficult. We report ophthalmic findings and the course of the disease in members of a family with chronic progressive external ophthalmoplegia presenting with severe acquired blepharoptosis. From study at the family background, the inheritance seemed autosomal dominant. In one case, a comprehensive workup, including muscular biopsy and molecular genetics disclosed a mitochondrial myopathy. During the 30-year follow-up, the patients were operated on for their ptosis several times, because of recurrences and uneven results.
Patte
M
M
Service d'Ophtalmologie, CHU Gabriel Montpied, rue Montalembert, BP 69, 63003 Clermont-Ferrand.
Dalens
H
H
Sole
P
P
Sole
M
M
Clavelou
P
P
Boespflug-Tangy
O
O
Beaufrère
A M
AM
Bacin
F
F
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype