All The Better to See You With
Using a mouse model to shed new light on a genetic cause of enlarged eyeballs
Roisin McGuigan |
Buphthalmos (abnormal enlargement of the eyes) is often observed in congenital glaucoma, and can result in severe myopia. Although the first recorded mention of the disorder appears to have been in Ancient Greece by Celsius over 2,000 years ago, the normal physiological mechanism that prevents it from developing has remained something of a mystery. But now, a team has uncovered a genetic mechanism which can account for uncontrolled retinal proliferation and eye growth: mutation of the low density lipoprotein receptor-related protein 2 (LRP2) gene.
Researchers, including a team from the Max Delbrück Center for Molecular Medicine, Berlin, Germany, found that the developmental morphogen Sonic Hedgehog (SHH) stimulates retinal stem cells to proliferate and differentiate, and the LRP2 receptors found at the outermost margin of the retina act to intercept, degrade and clear it. This keeps the stem cells at the edge of the retina unstimulated, and prevents unrestricted growth of the eye. In mice with mutated LRP2 though, SHH at the periphery is left unchecked, and makes its way to the edge of the retinal margin and stimulates the cells there, which results in significant growth of the eye (1) (see Figure 1).
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