In the eye, COL5A1 and COL5A2 mutations manifest as abnormally thin and steep corneas with floppy eyelids. Mechanisms involved in producing the latter anomalies probably involve altered regulation of collagen fibrillogenesis due to abnormalities in heterotypic type I/V collagen interactions similar to those observed in the Col5a1+/- mouse cornea.
Our data combined with the previously reported mutational spectrum of ZEB1 support a genotypephenotype correlation: missense substitutions in the ZEB1 protein are associated with FECD6 and keratoconus, whereas protein truncating ZEB1 mutations result in PPCD3. The dysregulation of α-type IV collagens represents a common link between ZEB1 mutation and the clinical phenotypes (PPCD3, FECD, and keratoconus).
This study supports the use of SHRM as a prognostic biomarker when interpreting optical coherence tomography in neovascular age-related macular degeneration. Baseline parameters predicting poorer vision 1 year after intravitreal bevacizumab treatment were as follows: presence of central SHRM, well-defined SHRM borders, intraretinal fluid, and thicker SHRM.
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