Neuro-Ophthalmic Manifestations of Costeff Syndrome (.pdf)

Type III 3-methylglutaconic aciduria (OPA III) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy caused by mutation c.143-1G>C variant. Since Costeff described phenotype of 19 patients in 1989 several reports described approximately 40 patients, but most of them lack details about neuro-ophthalmic phenotype. Our aim was to characterize the clinical course of the neuro-ophthalmic manifestations of this syndrome