Peters Anomaly Workup

Updated: Sep 12, 2018
  • Author: Danielle Trief, MD; Chief Editor: Donny W Suh, MD, MBA, FAAP, FACS  more...
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Laboratory Studies

Peters anomaly is a clinical diagnosis. Depending on the physical examination, laboratory studies may be warranted.


Imaging Studies

The following imaging studies may be performed based on the clinical findings from the physical examination:

Ocular ultrasonography

Ocular ultrasonography is a useful tool to help diagnose Peters anomaly and to differentiate it from other causes of corneal opacity.

Ocular ultrasonography is also helpful in assessing associated anterior segment abnormalities. [29]

Ocular ultrasonography shows hypoechogenicity of the anterior stroma that histopathologically correlates with the absence of the Bowman layer and the presence of stromal edema. [29]

Ultrasound biomicroscopy

Ultrasound biomicroscopy (UBM) is a type of ultrasonography that provides detailed information about the anterior segment of the eye and can visualize iridocorneal and lenticular-corneal adhesions that may be seen in Peters anomaly.

Topical endoscopic imaging

Topical endoscopic imaging (TEI) is a method used to examine the anterior segment using an otoscope through a small clear area of cornea. [30]

Infrared anterior segment camera

An infrared anterior segment camera is a tool used to observe the iris and its relation to the cornea. The mobility of the camera is useful in infants, although the resolution of the imaging may be too low in some cases. [31]


Other Tests

Additional testing should be performed if Peters plus syndrome is suspected or if there is concern for systemic associations.

Hearing tests

Hearing tests may be performed to rule out hearing abnormalities.


MRI of the brain and the spinal cord are indicated to rule out neurologic defects.

MRI of the abdomen is indicated to rule out genitourinary abnormalities.


Echocardiography (ECHO) is indicated to rule out cardiac defects.



A thorough ocular examination may be performed under anesthesia. Any clinical manifestations and systemic abnormalities must be determined before any procedure is performed under anesthesia. [13]  Associated abnormalities, including a difficult airway or congenital heart disease, will affect anesthesia management.

External photography, ocular ultrasonography (see Imaging Studies), intraocular pressure assessment, and retinoscopy may also be performed.


Histologic Findings

Histopathology is often diagnostic. Histologic findings show either thinning or absence of the Descemet membrane or the endothelium. The lens may be normal, or it may be cataractous and adhere to the cornea. The stromal lamellae are irregular and more closely packed. Undifferentiated iris strands attach to the posterior surface of the cornea. [32]

Histochemical studies have shown absence of keratan sulfate in both the cornea and the sclera. [33]

Immunohistochemical studies have shown increased amounts of fibronectin and type VI collagen in the corneas of patients with Peters anomaly. [33, 34]