Eye Birth Defects

Peter’s Anomaly

Peter’s Anomaly is a developmental defect characterized by corneal clouding and sometimes adhesions of the iris, lens, and cornea. Other defects, such as dwarfism and intellectual disability, sometimes accompany it. Though relatively rare, an estimate of 44-60 cases of Peters anomaly is reported in the United States annually. Without immediate surgical intervention, the disease may result in blindness.

Corneal endothelial dystrophies

This is a group of genetic, often progressive, eye disorders in which abnormal material accumulates in the clear (transparent) outer layer of the eye (cornea). Though sometimes there are no symptoms, the condition can cause severe vision issues.

Corneal dystrophies may not cause symptoms (asymptomatic) in some individuals; in others, they may cause significant vision impairment. The age of onset and specific symptoms vary among the different forms of corneal dystrophy. The disorders have some similar characteristics; most forms of corneal dystrophy affect both eyes (bilateral), progress slowly, do not affect other areas of the body, and tend to run in families.

Fraser’s Syndrome

Fraser’s Syndrome is a rare developmental anomaly in which the skin is continuous over the eyeball without any indication of the formation of eyelids. The disorder affects development starting before birth. Characteristics include eyes that are completely covered by skin and usually malformed (cryptophthalmos), as well as skin fusion elsewhere on the body. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood.

Congenital Glaucoma

Also called infantile glaucoma, the condition is present at birth or develops before 3 years of age. One out of every 30,000 live births is affected by this highly uncommon condition, which can result in severe and irreversible vision loss in affected children.

Glaucoma is characterized by increased pressure within the eye that causes defects in the field of vision. Glaucoma gradually weakens the optic nerve. If the damage is not repaired, it may lead to a smaller visual field or even total blindness.

Mucolipidoses (ML)

ML is an autosomal recessive disorder characterized by psychomotor disabilities and severe visual impairment that causes clouding of the cornea in infancy or childhood.

Symptoms of ML can be present at birth or begin in early childhood or adolescence. Early symptoms may include vision problems and developmental delays. Many children with ML develop poor mental capacities, have difficulty reaching typical developmental milestones, and, in many cases, eventually die of the disease.

Corneal dermoid

This is an exceedingly rare, benign, congenital corneal tumor characterized by clouding of the cornea with superficial grayish layers and irregular raised whitish plaques. Fine blood vessels may cover the central cornea and its borders. No other ocular or systemic abnormality is noted.

Congenital coloboma

Coloboma occurs when a baby’s eye fails to develop normally during pregnancy because of abnormal or changed genes that affect eye development. Coloboma sometimes runs in families. Environmental factors, such as drinking alcohol during pregnancy, may also increase a baby’s risk for coloboma.

Optic Nerve Hypoplasia (ONH)

Optic nerve hypoplasia is the most common ocular malformation in babies born to mothers with diabetes. This condition is the under-development or absence of the optic nerve combined with possible brain and endocrine abnormalities. It is also known as Septo-Optic Dysplasia or DeMorsier’s Syndrome.

Persistent fetal vasculature

Persistent fetal vasculature occurs when blood vessels in the retina that should disappear as the fetus develops inside the womb do not disappear. This can lead to vision problems.

Morning glory disc anomaly

With morning glory disc anomaly, blood vessels that supply nutrients to the eye’s retina do not radiate from a standard central point. The optic nerve also fails to develop correctly when the child is in the womb. The result is excess white tissue in the back of the eye, which looks like the center of the morning glory flower.

Peripapillary staphyloma

This is a lengthening of the eyeball, which causes a thinning and stretching of the sclera (the white tissue around the iris surrounding the eye). This allows particular layers inside of the eye to protrude through other layers.

Congenital third nerve palsy

Congenital third nerve palsy is paralysis of the third cranial nerve, which affects the movement of the eyelid and eye muscles. 

Horner’s syndrome

Horner’s syndrome is a condition that disturbs the nerves of the eye and face. The nerve dysfunction can cause ptosis (droopy eyelid), miosis (small pupil when compared to the other), and anhidrosis (lack of sweating) on one side of the face. This can be present at birth, or it can develop later.

Ptosis (droopy eye)

This occurs when an eyelid does not open fully. Ptosis can affect the developing vision and needs to be watched closely by a physician.

Amblyopia

Also known as lazy eye, amblyopia is a disorder of the visual system characterized by poor vision or lack of vision in an otherwise normal eye. Visual stimulation either fails to transmit or is poorly transmitted continuously through the optic nerve to the brain.

Proptosis

This is the bulging of the eyeball. Usually, it is a sign of a severe orbital disorder, such as a tumor, inflammation, or thyroid eye disease.

Astigmatism

Astigmatism occurs when the cornea (the clear tissue covering the front of the eye) is abnormally curved, causing vision to be out of focus.

Anophthalmia

This is the medical term for the absence of one or both eyes. Both the eye socket and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, and short eyelids. The disease can be diagnosed with a CT scan (particularly an X-ray test).

Microphthalmia

Microphthalmia is a genetic mutation when the baby has small eyes. One or both of the eyes are small. The condition is rare and can cause vision loss, disabilities, or blindness. There’s no treatment that can create a new eye or bring vision. The disease can be diagnosed with a CT scan (particular x-ray test).

Cataracts

A cataract forms on the lens of the eye and makes it cloudy, causing poor vision and subdued colors.