Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

Abstract

The authors report about the association of progressive external ophthalmoplegia, atypical pigmentary retinopathy, ataxia phenotype with onset in first months of life (Kearns-Sayre syndrome) and with optic nerve atrophy and deafness. The localization of retinal lesions was coincident with that reported by multifunctional electroretinogram (mfERG) in OPA 1 mutation. The authors hypothesize that Kearns-Sayre mitochondrial mutation may be associated with OPA 1 missense mutation, with worsening of symptomatology, as occurs in the reported case. The prolonged rehabilitation and treatment with coenzyme Q10 for many years gave positive results, with amelioration of ophthalmoplegia, stopping of aggravation of retinal damage and optic nerve atrophy, maintaining of vision some meters away, possibility of socialization and proprioceptive ability amelioration.