Cloudy Baby Eyes

In the March 2023 edition of the journal Cornea, Dr. Elena Franco and colleagues published a study about 22q11.2 deletion syndrome. This is a chromosomal deletion syndrome that they describe as having great “phenotypic variability,” which means that it causes a lot of different abnormalities which are inconsistent–that is, people with this chromosomal deletion don’t often have the same issues.

The reason that this syndrome appears in the journal Cornea is that 22q11.2 deletion syndrome can cause an opaque spot in the cornea, which obviously obstructs the line of sight and affects vision. Thankfully, however, as part of the “phenotypic variability,” most people with 22q11.2 deletion do not have this cloudy eye appearance.