Peters-plus syndrome

Peters-plus syndrome is a rare genetic disorder characterized by a specific eye abnormality, short stature, developmental delay, and distinctive facial features. The syndrome is named after the eye abnormality, which is called Peters anomaly. This anomaly involves the front part of the eye, a clear covering called the cornea, and the iris, which is the colored part of the eye. In people with Peters anomaly, the cornea is cloudy (opaque) and adheres to the iris, which can lead to vision problems.

Symptoms

The most common symptoms of Peters-plus syndrome include:

• Peters anomaly, which can cause vision problems
• Short stature
• Developmental delay
• Distinctive facial features, such as a prominent forehead, narrow eye openings (palpebral fissures), an unusually small nose and mouth, and a prominent upper lip

Causes

Peters-plus syndrome is caused by mutations in the B3GLCT gene. This gene provides instructions for making an enzyme that is involved in the modification of a protein called laminin. Laminin is an important part of the extracellular matrix, which is a lattice-like network of proteins and other molecules that provides structure and support to cells. The B3GLCT enzyme modifies laminin so it can attach (bind) to other proteins and molecules. Mutations in the B3GLCT gene disrupt the function of the enzyme, which impairs the normal formation and function of the extracellular matrix. This disruption leads to the characteristic features of Peters-plus syndrome.

Diagnosis

Diagnosis of Peters-plus syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing to identify a mutation in the B3GLCT gene.

Treatment

Treatment for Peters-plus syndrome is symptomatic and supportive. It may include surgery to correct the eye abnormalities, growth hormone therapy for short stature, and early intervention services for developmental delay.

Prognosis

The prognosis for individuals with Peters-plus syndrome varies. Some individuals have normal intelligence and a near-normal life span, while others may have severe intellectual disability and life-threatening complications.

See also

• Genetic disorder
• Peters anomaly
• B3GLCT
• Laminin
• Extracellular matrix

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