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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-09-2015
Symbol GLC3D
Location 14q24.3
Name glaucoma, primary 3D, congenital (buphtalmos)
Other name(s) primary congenital glaucoma 1
Corresponding gene LTBP2
Other symbol(s) PCG1
Main clinical features
  • high intraocular pressure (IOP), usually within the first year of life, which potentially could lead to optic nerve damage, globe enlargement, and permanent loss of vision
  • Genetic determination
    Function/system disorder eye
    Type disease