In primary congenital glaucoma (PCG), abnormally high intraocular pressure (IOP) is present within the first year of life. This can lead to optic nerve damage, globe enlargement, and permanent loss of vision. Manir Ali, Chris Inglehearn and colleagues have recently identified LTBP2 on Chr. 14q24.3 as a new gene for this autosomal recessive condition. LTBP2 is a large protein containing TGF-β-binding protein-like modules, which also interacts with fibrillin. The identification of LTBP2 as a glaucoma gene gives new insights into the possible roles of these molecules in development of the ciliary body and surrounding structures.
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy A, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF (2009). Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 84:664-671. Journal site