A study using tiny retinas grown in a lab has revealed how subtle changes in a key growth-controlling protein can lead to a condition causing serious eye defects from birth. The findings, published in the journal Biochimica et Biophysica Acta (BBA)—Molecular Basis of Disease, shed new light on ocular coloboma, a rare congenital eye condition affecting about 1 in 5,000 births and responsible for roughly 10% of childhood blindness. Coloboma arises when a structure in the developing eye, the optic fissure, fails to close properly and often co-occurs with other tissue-fusion problems such as cleft lip and/or palate.
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