Professor David FitzPatrick: Medical and Developmental Genetics


The optic fissure must then fuse to form a normal eye, failure of this step will cause coloboma which can involve the light collecting inner surface of the eye (the retina), the nerve carrying the visual information (the optic nerve) and/or the tissue surrounding the pupil (the iris). Failure of any of the processes involved in early eye development may cause anophthalmia and/or microphthalmia. In most cases the cause of these problems is not known.


Our research group at the MRC Human Genetics Unit in Edinburgh have identified changes in genes called SOX2, OTX2 and PAX6 that cause a proportion of severe eye malformations. These genes are involved both in the out-pouching of the early brain and the formation of the lens. About 20% of children with anophthalmia or severe microphthalmia will have a tiny genetic change in one of these genes. We are now extending our studies of these and other genes that act in the developing eye to improve our understanding of these conditions.

Further Information

If you wish to discuss any aspect of this study further please contact the doctor listed below:


Professor David FitzPatrick MD FRCP(Edin)
Medical Genetics Section
MRC Human Genetics Unit
Western General Hospital
Edinburgh EH4 2XU


If you have any concerns or complaints arising from this research study please contact:

Dr K. Wilson, Administrative Director, MRC Human Genetics Unit, Edinburgh EH4 2XU.


Download UK Consent and Information Forms

Information Sheets

Parent Information Sheet (Word File)

Capable Adult Information Sheet (Word File)

Child Information Sheet (Word File)

Incapable Adult Information Sheet (Word File)

Consent Forms

Parent Consent Form (Word File)

Adult (unable to consent for themselves) Form (Word File)

Capable Adult Consent Form (Word File)

Child Consent Form (Word File)


The Genetic Basis of Eye Malformations
(Word File)



These fall into three parts:

  1. The Eye Malformation Study (information and consent forms) (this page)
  2. The Facial Cleft Study (information and consent forms)
  3. Cornelia de Lange Syndrome Study



“Our aim is to identify genes that cause serious eye malformations. Finding such genes will help improve our understanding
of how these disorders occur.”


This knowledge may eventually help in the management and treatment of these conditions. Our research can also help understand how these genes function normally in human development. We are keen to recruit new cases affected with:

  • Anophthalmia (absent eye)
  • Microphthalmia (small eye),
  • Coloboma (6 o'clock defect in iris, retina or optic nerve)
  • Other related eye malformations are birth defects that are caused by an abnormality in the early development of the eye.

Our study has been approved by the Multiregion Research Ethics Committee and the information and consent forms can be downloaded using the link above.


redrawn from O'Rahilly and Muller: Developmental Stages in Human Embryos


The eye begins developing in the early embryo at 28 days after fertilisation (equivalent to six weeks of pregnancy) as an out-pouching of both sides of the brain called the optic vesicle. The optic vesicle grows and makes contact with the surface of the embryonic face, this contact produces a surface thickening called a placode that subsequently forms the lens of the eye. The out-pouching then changes shape to form the optic cup ultimately forming a hollow sphere with a space containing the lens at the front and a gap along the bottom called the optic fissure.