Transgenic models for eye malformations

Several lines of transgenic mice developing eye malformations have been described in the literature and appear to be of increasing interest for the study of eye teratology in humans, since gene expression and regulation can be studied in the developing animal. Transgenic applications are briefly described here and an overview of existing transgenic mouse models carrying different eye abnormalities is given according to the major diagnosis (e.g., cataract, microphthalmia, anterior segment dysgenesis, retinal dysplasia). Interestingly, many transgenic models exhibit pathological findings similar to those observed in human pediatric ophthalmology. Unfortunately, detailed embryological studies in transgenic mice bearing congenital eye malformations are not available for all lines. Thus, the importance of creating further transgenic models to study the function of morphogenes and growth factors in eye development is also discussed.