Coloboma of optic nerve

Coloboma of the Optic Nerve

Diagram illustrating autosomal dominant inheritance.

Coloboma of the optic nerve is a congenital malformation of the eye, specifically affecting the optic nerve. It is characterized by a defect in the structure of the optic nerve, which can lead to various visual impairments. This condition is part of a broader group of ocular colobomas, which can affect different parts of the eye.

Pathophysiology

Coloboma of the optic nerve occurs due to incomplete closure of the embryonic fissure during eye development. This results in a gap or defect in the optic nerve head. The defect can vary in size and shape, and its impact on vision depends on the extent and location of the coloboma.

Clinical Presentation

Patients with coloboma of the optic nerve may present with:

• Reduced visual acuity
• Visual field defects
• Nystagmus
• Strabismus

The severity of symptoms can vary widely among individuals. Some may have significant visual impairment, while others may have minimal symptoms.

Diagnosis

Diagnosis of coloboma of the optic nerve is typically made through a comprehensive eye examination, which may include:

• Ophthalmoscopy
• Visual field test
• Optical coherence tomography (OCT)

Genetic Aspects

Coloboma of the optic nerve can occur sporadically or as part of a genetic syndrome. It may be inherited in an autosomal dominant pattern, as illustrated in the diagram. Genetic counseling may be recommended for affected families.

Management

There is no cure for coloboma of the optic nerve, but management focuses on optimizing visual function and addressing any associated conditions. This may include:

• Corrective lenses
• Low vision aids
• Regular monitoring by an ophthalmologist

Related Pages

• Coloboma
• Optic nerve
• Congenital eye disorders