Birth Defects of the Eye

At the Center for Vision Research, one focus of our work is to learn all we can about the genes required for normal eye formation and how these genes change to cause birth defects that affect sight.

Dr. Francesca Pignoni and Dr. Michael Zuber have spent much of their careers looking at early eye formation through genetic studies in two different model systems, the fly (Drosophila melanogaster) and the frog (Xenopus laevis).   

It is amazing how the genetic material in such very different species can be so alike. In fact, many of the same genes that control normal eye formation in fly or frog are also required for the development of the human eye. Because of similarities discovered by the research teams of Dr. Pignoni and Dr. Zuber, groundbreaking information relevant to the prevention and treatment of congenital eye disease is rapidly being developed.

Today, the laboratories of Dr. Pignoni and Dr. Zuber study genes that are altered in patients whose eye are malformed (aniridia, Peters anomaly, coloboma, congenital cataracts), smaller (microphthalmia) or even absent (anophthalmia). By studying the genetic mechanisms at work during eye formation, researchers in these CVR Labs are gaining vital knowledge about how to treat blinding diseases and eye injury later in life, and they are beginning to understand how life-altering visual defects may one day be prevented.  With continued education and research, answers may be just around the corner. 

Why Research is Important?

Research into the genetic causes of visual birth defects is producing valuable information about how to isolate genes responsible for specific mutations.  This important work is developing techniques for gene therapy that have potential to prevent or treat congenital blindness and other progressive eye diseases in the future.

Birth Defects of the Eye may result in:

What are Birth Defects of the Eye?

Learning your child has a birth defect is devastating news.  Visual defects in infants and children can be serious, and often change the course of a child’s life.  Partial or total blindness from defects in the cornea, retina, orbit or other parts of the eye is generally obvious and permanent.  Other visual birth defects are harder to detect but may be just as severe.   While genetic changes are most often associated with infantile blindness, birth defects related to eyesight may affect a person at any age.

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