Keratoglobus is characterized by a steep corneal curvature, peripheral corneal thinning, and a very deep anterior chamber. The phenotype can be due to brittle cornea syndrome, which is the result of biallelic mutations in ZNF469 or PRDM5. Spontaneous breaks in Descemet membrane may produce acute corneal edema. Because the cornea can be ruptured by minor blunt trauma, wearing protective spectacles full time is appropriate.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.