Vanderbilt: Genetic Clues in Eye Birth Defect
February 19, 2021
February 19, 2021
NASHVILLE, Tennessee, Feb. 19 (TNSJou) -- Vanderbilt University issued the following news:
Uveal coloboma -- a birth defect that causes a malformation of the eye -- accounts for up to 10% of childhood blindness. Coloboma results from a defective fusion of the optic fissure during eye development.
Mutations in the gene encoding Neurofibromin 2 (NF2) can cause eye abnormalities in humans, including coloboma, but the precise role of NF2 in optic fissure closure is not clea . . .
Uveal coloboma -- a birth defect that causes a malformation of the eye -- accounts for up to 10% of childhood blindness. Coloboma results from a defective fusion of the optic fissure during eye development.
Mutations in the gene encoding Neurofibromin 2 (NF2) can cause eye abnormalities in humans, including coloboma, but the precise role of NF2 in optic fissure closure is not clea . . .