Article
Null mutations in LTBP2 cause primary congenital glaucoma.
American journal of human genetics - 1 May 2009
Ali Manir, McKibbin Martin, Booth Adam, Parry David A, Jain Payal, Riazuddin S Amer, Hejtmancik J Fielding, Khan Shaheen N, Firasat Sabika, Shires Mike, Gilmour David F, Towns Katherine, Murphy Anna-Louise, Azmanov Dimitar, Tournev Ivailo, Cherninkova Sylvia, Jafri Hussain, Raashid Yasmin, Toomes Carmel, Craig Jamie, Mackey David A, Kalaydjieva Luba, Riazuddin Sheikh, Inglehearn Chris F
Abstract excerpt
Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by 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. To date, PCG has been linked to three loci: 2p21 (GLC3A), for which the responsible gene is CYP1B1, and 1p36 (GLC3B) and 14q24 (GLC3C), for which the genes...
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