Peters anomaly: Symptoms, causes and treatment

What is Peters anomaly (PA)?

Peters anomaly is a genetic condition that results in the clouding of the cornea (the clear, front surface of the eye). This is due to improper development of the anterior segment (the front third of the eye). The corneal opacity, or leukoma, that often develops with PA may severely impact vision.

Reduced visual acuity due to Peters anomaly may create amblyopia (lazy eye). Amblyopia is decreased vision in the affected eye(s) due to interrupted visual development.

The anterior segment consists of the cornea, iris and lens of the eye. These normally form around seven weeks into pregnancy. In PA, the proper development and separation of these structures are incomplete.

Symptoms

Peters anomaly is often detected by a pediatrician shortly after birth. The most characteristic symptom of PA is an opaque area on the cornea. This opaque area is called a leukoma. A leukoma is defined as a dense white scar. 

Peters anomaly is responsible for 40% of congenital leukomas detected in infants. The resulting corneal defect often adheres to the iris, causing structural and visual problems. 

Leukomas vary in size and transparency from individual to individual. This variance ranges from small, hard-to-see streaks on the cornea to fully opaque leukomas.

Peters anomaly affects both eyes in 80% of cases but is often asymmetric. 

Also, Peters anomaly often presents with ocular diagnosis such as:

• Glaucoma – a condition in which fluid builds up in the eye increasing intraocular pressure. The elevated pressure within the eye can damage the optic nerve and create significant vision loss. Glaucoma due to Peters anomaly is very difficult to treat and control.

• Cataract – when the lens in the eye has an opacity that negatively affects the proper development of vision. In PA the lens may adhere to the back of the cornea.

• Amblyopia – reduced visual acuity in one or both eyes commonly known as “lazy eye.” In PA, amblyopia development is secondary to the corneal opacities and cataracts.

• Nystagmus – involuntary movement or “dancing” of the eyes. Nystagmus is a manner in which the visual system “ searches” for an area with better visual acuity.

• Strabismus – often presents when a deeply amblyopic eye is unable to fixate. Strabismus is also known as “crossed eyes.” The eye often drifts in toward the nose (most common) or out toward the ear causing a misalignment.

Causes

Multiple genetic factors, especially the mutation of genes involved in eye development, can cause Peters anomaly.

Children born prematurely have a high risk of developing Peters anomaly. A diagnosis of fetal alcohol syndrome has also been associated with a higher incidence of PA.

Other syndromes associated with Peters anomaly are:

• Peters plus syndrome – Peters plus syndrome is an inheritable genetic condition. It is characterized by ocular findings plus dysmorphic facial features, cardiac issues and/or central nervous system malformations.

• Axenfeld-Rieger syndrome – Axenfeld-Rieger syndrome has a similar genetic mutation to Peters anomaly. It includes iris and corneal anomalies, cataracts and glaucoma. 

Treatment

The goal of treatment for Peters anomaly is to provide the best possible vision for the child. Proper treatment requires a multidisciplinary approach. 

Care often requires a pediatric ophthalmologist, corneal specialist, glaucoma specialist and an optometrist specializing in low vision. Surgical treatment is necessary in cases of PA with dense corneal opacities and cataracts.

The most common surgeries for Peters anomaly are:

• Penetrating keratoplasty – This is a full thickness corneal transplant. The goal is to create a clear cornea and a path for improved visual acuity. 

• Cataract extraction – This is the removal of the lens to aid in establishing a clear line of site.

Complications

Possible complications of penetrating keratoplasty surgery are graft failure, infection and steroid-induced glaucoma. Due to all of the factors involved in penetrating keratoplasty, corneal transplants have a variable rate of graft failure of around 20% to 80%.

Over half of individuals with Peters anomaly have secondary glaucoma. This will often require multiple surgeries.

Most patients with PA are left with some level of amblyopia (decreased vision). Infants who have had cataracts removed will need to be fit with a high power, soft contact lens. The resulting amblyopia will need to be treated with occlusion (patching) to achieve their best visual acuity.

It is common for individuals with Peters anomaly to work with a low vision specialist. This is to maximize their vision and visual function throughout all stages of life.

When to see a doctor

If you notice your infant has opacities on the cornea or lens of their eye, visit an eye doctor for a comprehensive eye exam. If there is a family history of Peters anomaly, this should be shared with your physician prior to the birth. 

Early detection and treatment of conditions such as Peters anomaly are the best methods for a successful outcome.

Page published on Wednesday, December 7, 2022

Page updated on Tuesday, December 13, 2022

Medically reviewed on Thursday, November 10, 2022