Congenital eye abnormalities are a large group of eye diseases caused by disturbance of the embryogenesis. In the human embryo, the eyes are formed by a delicate and complex process. Problems in this process can lead to congenital eye malformations. These conditions are relatively rare, occurring in approximately five per 10,000 live births.
The human eye forms through a complex program during embryonic development. Problems in this developmental process can lead to congenital eye malformations, such as anophthalmia, microphthalmia, coloboma, aniridia, and optic nerve hypoplasia etc.
Symptoms include an abnormal looking eye and reduced eye vision.
These problems are usually apparent in an eye examination, but patients may occasionally require further systemic tests, such as an MRI, CT scan or ultrasounds.
Treatment focuses on maximizing visual potential with glasses and patching. Patients are treated by ophthalmic surgeons, as necessary, for treatment of glaucoma, cataracts, or other associated anomalies. Genetic counseling and information access is also provided. The frequency of treatment can vary from once every month to once a year.
Our aim is to describe our clinical observations and to develop our approaching and diagnostics of these problems.