Bilateral ptosis due to mitochondrial cytopathy secondary to antiretroviral treatment toxicity.

摘要

Purpose : Progressive external ophthalmoplegia is the most common clinical presentation of mitochondrial diseases, associated with fatigability and muscular pain. These conditions are often hereditary and diagnosed early in life. We report cases of isolated bilateral ptosis due to acquired mitochondrial toxicity secondary to antiretroviral treatment in HIV infected patients. Methods : Medical records of patients treated with antiretroviral drugs for HIV infection and presenting with acquired ptosis evocative of mitochondrial cytopathy were retrospectively reviewed. Patients were followed both in the Myology and Ophthalmology departments. For all patients, differential diagnostics such as myasthenia, Melas, Merrf and oculopharyngeal dystrophy syndroms were ruled out by an etiologic work up. Muscular biopsy was performed in all cases to histologically confirm the diagnosis of mitochondriopathy and for genetic analysis purposes. Results : Ten male patients were included. All patients presented bilateral ptosis. Ptosis was initially bilateral and symetric in 4 patients (40%) and secondarly bilatreal in 6 patients (60%). The average delay between initiation of antiretroviral treatment and ptosis was 12 years. The muscular biopsy demonstrated red ragged fibers in 9 patients (90%) and a Cox1 deficit in all patients. Genetic analysis revealed multiple deletions in 4 patients (40%) but no DNA depletion. Conclusions : Mitochondrial toxicity secondary to antiretroviral treatment is an unknown cause of ptosis in patients without other muscular symptoms. Further genetic analysis remain necessary to assess the responsible abnormalities. Modification of the antiretroviral therapy does not seem to influence the evolution of the disease which could result from a cumulative toxicity as suggested by the 12-year delay before the onset of symptoms.This entity is probably largely underestimated among HIV patients and is important to detect because it can affect the therapeutic strategy for these patients, in case of surgical correction of the ptosis. This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.