title: Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis.
abstract: Normal tension glaucoma and dominant optic atrophy share many overlapping clinical features, and differentiating between these two diseases is often difficult. The gene responsible for dominant optic atrophy is the OPA1 gene located on chromosome 3. This gene encodes for a protein product that is involved in mitochondrial metabolic function. Recent genetic linkage analysis of patients with normal tension glaucoma has shown an association with polymorphisms of the OPA1 gene. This association suggests that normal tension glaucoma may actually be a hereditary optic neuropathy with a pathophysiology based in mitochondrial dysfunction.
authors.affiliation: Neuro-Ophthalmology Service, Wills Eye Hospital, Thomas Jefferson Medical College, Philadelphia, PA, USA.
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Buono
authors.forename: Rod
authors.initials: R
authors.lastname: Foroozan
authors.forename: Robert C
authors.initials: RC
authors.lastname: Sergott
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Savino
mesh_terms: D018450:Disease Progression; D020558:GTP Phosphohydrolases / Q000235:genetics; D005901:Glaucoma / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007429:Intraocular Pressure; D028361:Mitochondrial Diseases / Q000503:physiopathology; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D011110:Polymorphism, Genetic; D014786:Vision Disorders / Q000209:etiology
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human