Genetic testing for optic atrophy

Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner, rarely in an autosomal recessive manner, with an overall prevalence of 3/100,000 live births. It is caused by mutations in the OPA1, OPA3 and TMEM126A genes. Clinical diagnosis is based on clinical findings, ophthalmological examination, OCT, visual evoked potentials (VEPs) and electroretinography. The genetic test is useful for confirming diagnosis, differential diagnosis, couple risk assessment and access to clinical trials.