title: Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.
abstract: Inherited disorders of the optic nerve significantly impact vision in children and adults. The optic nerve disorders most commonly encountered clinically are glaucoma and primary optic neuropathy including Leber's hereditary optic neuropathy (LHON) and autosomal dominant or Kjer's optic atrophy. Current knowledge of the genetics of optic neuropathy and glaucoma makes it possible to test for mutations in disease-causing genes allowing for presymptomatic testing and risk assessment, and recent advances have revealed important disease mechanisms that may suggest potential therapeutic targets. In this perspective, we describe the current approaches and limitations to genetic testing for these disorders and provide an update on the development of gene-based therapies.
authors.affiliation: Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114.
authors.forename: Keri F
authors.initials: KF
authors.lastname: Allen
authors.affiliation: Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114.
authors.forename: Eric D
authors.initials: ED
authors.lastname: Gaier
authors.affiliation: Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114.
authors.forename: Janey L
authors.initials: JL
authors.lastname: Wiggs
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D005901:Glaucoma / Q000235:genetics*; D006801:Humans; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D018570:Risk Assessment
chemical_list: D004272:DNA, Mitochondrial