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GENATLAS PHENOTYPE
last update : 7/05/2008
Symbol GLC1E
Location 10p13
HGNC id 4305
Name glaucoma, primary open angle 1E
Corresponding gene OPTN
Main clinical features
  • adult onset
  • characterized by cupping of the optic nerve head, visual field loss, associated with normal intraocular pressure, termed normal tension glaucoma
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name optineurin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function E50K mostly prevalent, displaying much stronger binding to TBK1 than wild-type OPTN
    Remark(s)
    Genotype/Phenotype correlations E50K mutation were found to have normal tension glaucoma that appeared to be more severe than that in a control group of subjects with normal tension glaucoma without this mutation