Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0595921 (intraocular pressure)
 11,750 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 remain to be identified. Here we report that null mutations in LTBP2 cause PCG in four consanguineous families from Pakistan and in patients of Gypsy ethnicity. LTBP2 maps to chromosome 14q24.3 but is around 1.3 Mb proximal to the documented GLC3C locus. Therefore, it remains to be determined whether LTBP2 is the GLC3C gene or whether a second adjacent gene is also implicated in PCG. LTBP2 is the largest member of the latent transforming growth factor (TGF)-beta binding protein family, which are extracellular matrix proteins with multidomain structure. It has homology to fibrillins and may have roles in cell adhesion and as a structural component of microfibrils. We confirmed localization of LTBP2 in the anterior segment of the eye, at the ciliary body, and particularly the ciliary process. These findings reveal that LTBP2 is essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone.
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PMID:Null mutations in LTBP2 cause primary congenital glaucoma. 1936 79

Glaucoma is the second most prominent cause of impaired vision in the world. Over 60 million individuals are presently affected, and 12 million are sightless as a result. Primary congenital glaucoma (PCG) is a childhood disease that can lead to blindness in newborns and very young children. The rate of occurrence of PCG varies in different communities and across geographical boundaries, and its etiology is unknown. It is caused by genetic structural defects in the trabecular meshwork and makes its appearence in newborns and children no older than three years. PCG is most prevalent in populations with high rates of consanguineous marriages. It is categorized by inappropriate development of the eye's aqueous outflow system, causing increased intraocular pressure (IOP) and leading to swelling of the cornea, epiphora, discomfort or pain, enlargement of the eyeball (buphthalmos), corneal opacity, and optic nerve damage. PCG is classified as an autosomal recessive disorder involving four loci. The main culprit is CYP1B1, at locus GLC3A. PCG is also linked with loci GLC3B and GLC3C; however, their genetic factors have only recently been recognized. The gene LTPB2 at locus GLC3D, plays an important role in tissue healing and cell attachment. Trabeculectomy and gonioscopy are effective treatments for PCG. Additional efforts are essential to provide timely screening of children and, most important, to assign sufficient resources to allow healthcare workers to reduce the rate of avoidable blindness in developing countries.
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PMID:An Insight into Primary Congenital Glaucoma. 3242 83