Neuro-ophthalmologic findings in patients with mytochondrial cytopathies

V.Borislavova, S. Cherninkova / University Hospital Aleksandrovska, Clinic of Neurology, Sofia/

The aim of the present article is to characterize the neuro-ophthalmologic symptoms in patients with genetically verified mytochondrial cytopathies.

Contingent and methods: In 9 patients (5 women and 4 mens) avarage age ranging from 16 to 61 years with mitochondrial cytopathies were performed the following evaluations: visual acuity, perymetry, electroretonography, Ishichara testing, biomcroscopy, direct and indirect ophthalmoscopy and evaluation of ocular motility.

Results: Neuro-ophthalmologic signs were highly variable. The most frequent sign was bilateral ptosis. Other significant features were disorders in oculomotor movements as partial or complete ophthalmoparesis, atypical retinitis pigmentosa and optic atrophy.

Conclusion: Having in mind the large variety of symptoms in diagnosing mitochondrial cytopathies, the correct recognition of all the mixtures and combinations of neuro-ophthalmic and somatic signs is the most important process for getting the correct diagnosis.