Glaucoma is a heterogeneous group of optic neuropathies characterized by a specific pattern of optic nerve degeneration and visual field loss that is usually accompanied by increased intraocular pressure (IOP). It is the major cause of irreversible blindness worldwide. Primary glaucoma is classified into three major forms, primary congenital glaucoma [DS:H01203], primary open-angle glaucoma [DS:H00612], and primary angle-closure glaucoma (PACG). PACG, also known as primary closed-angle glaucoma (GLCC), is characterized by iridocorneal angle closure. It has been reported that mutations in COL18A1 that encodes collagen type XVIII cause this disease. Normal tension glaucoma (NTG) is an important subtype of glaucoma in which IOP is within the statistically normal population range, and accounts for approximately a third of all primary open angle glaucoma cases. Although the molecular mechanisms underlying NTG are unknown, there is evidence for the role of genetic factors in NTG. Exfoliation syndrome (XFS) is an age-related systemic disease that affects the extracellular matrix. It increases the risk of glaucoma.
Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E
タイトル
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
