Wagner's disease

Overview

Wagner's disease is a rare genetic disorder that primarily affects the eyes. It is characterized by progressive vitreoretinal degeneration, leading to vision impairment and potentially blindness. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagram illustrating autosomal dominant inheritance.

Symptoms

The symptoms of Wagner's disease typically begin in childhood or adolescence. Common symptoms include:

• Myopia (nearsightedness)
• Vitreous degeneration
• Retinal detachment
• Cataracts
• Night blindness

Pathophysiology

Wagner's disease is caused by mutations in the VCAN gene, which provides instructions for making a protein called versican. Versican is involved in the structure and function of the extracellular matrix in the eye. Mutations in the VCAN gene lead to abnormal protein production, affecting the vitreous body and retina.

Diagnosis

Diagnosis of Wagner's disease is based on clinical examination and family history. Genetic testing can confirm the presence of mutations in the VCAN gene. Ophthalmologic evaluations, including fundoscopy and optical coherence tomography, are used to assess the extent of vitreoretinal degeneration.

Treatment

There is currently no cure for Wagner's disease. Treatment focuses on managing symptoms and preventing complications. This may include:

• Corrective lenses for myopia
• Surgery for retinal detachment
• Cataract surgery
• Regular monitoring by an ophthalmologist

Prognosis

The prognosis for individuals with Wagner's disease varies. While some may experience significant vision loss, others may retain functional vision with appropriate management. Early detection and intervention are crucial in preserving vision.

Related pages

• Genetic disorder
• Retinal disease
• Ophthalmology