Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

doi:10.1093/hmg/ddp338

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Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

Human molecular genetics - 15 Oct 2009

Narooie-Nejad Mehrnaz, Paylakhi Seyed Hassan, Shojaee Seyedmehdi, Fazlali Zeinab, Rezaei Kanavi Mozhgan, Nilforushan Naveed, Yazdani Shahin, Babrzadeh Farbod, Suri Fatemeh, Ronaghi Mostafa, Elahi Elahe, Paisán-Ruiz Coro

Abstract excerpt

Glaucoma is a heterogeneous group of optic neuropathies that manifests by optic nerve head cupping or degeneration of the optic nerve, resulting in a specific pattern of visual field loss. Glaucoma leads to blindness if left untreated, and is considered the second leading cause of blindness worldwide. The subgroup primary congenital glaucoma (PCG) is characterized by an anatomical defect in the trabecular...

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Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

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