Congenital Eye Disease

A congenital eye disease is a disease of the eye that is present at birth. There are several conditions that can cause congenital eye diseases, including Down syndrome, dysplasia syndrome and chondrodysplasia syndrome. In some cases, patients may develop an illness during pregnancy that passes to the fetus, and birth defects may be expected. However, some congenital eye diseases do not stem from an underlying illness and may not be suspected until after the baby is born.

Congenital Cataracts
A cataract is a clouding of the lens of the eye. Many conditions can cause congenital cataracts, including ectodermal dysplasia syndrome, trisomy 13 and Pierre-Robin syndrome. The most common characteristic of congenital cataracts is a cloudiness or white spot in the pupil that is present at birth and easily seen without special equipment, according to the National Institutes of Health. Other symptoms include failure of an infant to show awareness and unusual or rapid eye movement.

Congenital Nystagmus
Nystagmus is the term for rapid, repetitive involuntary eye movements. Eye movement may be side to side, up and down or rotational. The National Institutes of Health explains that congenital nystagmus is usually mild and not associated with other disorders. People with nystagmus are often not aware of the eye movements. A diagnosis of nystagmus commonly includes a computed tomography scan or a magnetic resonance imaging scan of the head, an electro-oculograph to measure eye movements and vestibular testing to record eye movements and response to stimulation. In most cases, there is no treatment for congenital nystagmus.

Congenital Glaucoma
Congenital glaucoma is a group of eye conditions present at birth that lead to optic nerve damage. Pressure is the most common cause of damage to the optic nerve. Congenital glaucoma often runs in families and results from abnormal development of the fetus’ fluid outflow channels of the eye. Symptoms of congenital glaucoma are commonly observed when the child is just a few months old and often include cloudiness of the front of the eye, tearing, sensitivity to light and enlargement of one or both eyes. Physicians diagnose congenital glaucoma with a complete eye exam that includes examining intraocular pressure, the outflow channels of the eye, pupillary reflex response, visual acuity and visual field measurements.