A clinical case of the use of RPE65 gene replacement therapy in a patient with Leber’s amaurosis

Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy that manifests itself from birth or early childhood. The disease is characterized by the absence or sharp depression of visual functions from birth, nystagmus. The article presents the state and dynamics of visual functions of a patient with LCA type 2, starting from the age of 1 year and 2 months, with treatment in the form of choroidal revascularization and repeated retroscleroplasty of both eyes using the biological drug «Alloplant» before gene replacement therapy (HRT) at the age of 13. Gene replacement therapy after subretinal administration of the drug voretigene neparvovex was carried out at the Eye Microsurgery MNTK (Moscow). The results of measuring visual acuity, electroretinography and recording of visual evoked potentials, as well as characteristics of fixation eye movements are presented. 6 months after HRT, positive dynamics were observed, which was expressed in an increase in visual acuity, improvement in the characteristics of fixation eye movements and parameters of visual evoked potentials for a flash. Issues of diagnosis and management tactics for patients with congenital visual impairments are discussed. Key words: Leber congenital amaurosis, treatment, dispersed biomaterial «Alloplant», RPE65 gene, gene replacement therapy, voretigene neparvovec, visual acuity, visual evoked potentials, electroretinography, fixation eye movements