Dominantní ( Kjerova ) atrofie optiku asociovaná s mutacemi v OPA 1 genu Dominant ( Kjer ’ s ) optic atrophy as sociated with mutations in OPA 1 gene

Dominant optic atrophy (DOA) is an autosomal dominant disorder manifest ing by slowly progressive painless bilateral visual acuity loss with variable degree of severity. DOA is caused by mutations in nuclear DNA encod ing proteins as sociated with the in ner mitochondrial membrane. Most individuals with DOA harbour a dis ease-caus ing mutation in the OPA1 gene; however, other genes and loci as sociated with DOA have also been identified. First symp toms usual ly manifest in the fi rst two decades of life. The dis ease mechanism lies in neurodegenerative damage of retinal ganglion cel ls lead ing to optic nerve atrophy. Decrease of visual acuity is as sociated with colour vision alterations and central or paracentral visual field defects. On fundoscopic examination, optic head nerve pal lor can be noticed, occasional ly with excavation. Extraocular symp toms are present in some patients, caus ing so-cal led DOA plus syndrome. Bilateral sensorineural hear ing los s, is the most common one; chronic progres sive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like disorder, and spastic paraplegia of lower limbs are rare. Cur rently, there is no eff ective treatment available that would prevent the development of visual impairment. Genetic dia gnostics and fol low-up of patients with DOA are held in the Centre for Patients with Mitochondrial Optic Neuropathies, General University Hospital in Prague. The aim of this review is to increase awareness of the most com mon genetical ly determined optic neuropathy. Redakční rada potvrzuje, že rukopis práce splnil ICMJE kritéria pro publikace zasílané do biomedicínských časopisů. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for