Article
TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
American journal of medical genetics. Part A - 1 Oct 2024
Chacon-Camacho Oscar Francisco, Ordaz-Robles Thania, Cid-García Marion Aline, Hofmann-Blancas María Enriqueta, Ledesma-Gil Jasbeth, García-Huerta María Magdalena, Prado-Larrea Carolina, Cortés-González Vianney, Lozano-Garza Rodrigo Isaac, García-Vega Daphne, Kim JiHye, Khang Rin, Lee Eugene, Zenteno Juan Carlos
Abstract excerpt
Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not...
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