Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

These data define posterior microphthalmos biometrically and reveal that corneal steepening proportional to the degree of axial foreshortening is part of the phenotype. Corneal diameter decreases with decreasing axial length, suggesting posterior microphthalmos and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes. In the Saudi population PRSS56 mutations are the major cause, and in our cohort truncating mutations were associated with a more severe phenotype.