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Abstract #8355 Published in IGR 4-3
Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis
Buono LM; Foroozan R; Sergott RC; Savino PJCurrent Eye Research 2002; 13: 362-370
Normal-tension glaucoma (NTG) 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 NTG has shown an association with polymorphisms of the OPA1 gene. This association suggests that NTG may actually be a hereditary optic neuropathy with a pathophysiology based in mitochondrial dysfunction.
Classification:
9.2.4 Normal pressure glaucoma (Part of: 9 Clinical forms of glaucomas > 9.2 Primary open angle glaucomas)