This is the second lecture
dealing with lens development
and lens development disorders.
My name is Professor Chris Lloyd.
I'm a consultant
ophthalmologist at Great
Ormond Street Hospital in London.
I'm also an honorary consultant
at Manchester Royal Eye hospital
and honorary professor of
at Manchester Academic
Health Sciences Center
in the University of Manchester.
Congenital aphakia is an extremely
rare malformation of the eye.
It's usually associated with
other ocular malformations.
It can be caused by
rubella syndrome or
other early teratogenic
influences during the first four
weeks of gestation.
It can be caused by homozygous
mutations in the FOXE3 gene,
as illustrated by the
graphic to the right.
This is a case that was published
in Molecular Vision six years ago.
It can also occur as a
secondary phenomenon due
to persistent fetal vasculature.
a clinical description
of a spherical lens, a lens that is
reduced in its natural dimensions.
This can be caused by
These include mutations in the LTB2
gene, Weill-Marchesani syndrome,
homocystinuria, and other
like Aniridia or
which cause damage to the zonule.