Wagner syndrome is a rare genetic disorder characterized by abnormalities affecting the eyes, specifically the vitreous gel and the retina.

Overview:

Wagner syndrome is an inherited disorder that primarily affects the eyes. It is characterized by changes in the vitreous gel, which fills the space between the lens and the retina, as well as abnormalities in the retina itself.

History:

In 1938 Hans Wagner described 13 members of a Canton of Zurich family with a peculiar lesion of the viteous and retina. Ten additional affected members were observed by Boehringer et al. in 1960 and 5 more by Ricci in 1961. In the Netherlands Jansen in 1962 described 2 families with a total of 39 affected persons. Both families had only ocular features. Alexander and Shea in 1965 reported a family. In the last report, characteristic facies (epicanthus, broad sunken nasal bridge, receding chin) were noted. Genu valgum was present in all. In addition to typical changes in the vitreous, retinal detachment occurs in some and cataract is another complication.

Symptoms:

Symptoms of Wagner syndrome may include:

• Vitreous abnormalities: These can include liquefaction of the vitreous gel, leading to a condition called optically empty vitreous (where the gel appears empty or devoid of structure) and the presence of abnormal vitreous strands or membranes.
• Retinal changes: Wagner syndrome may cause degenerative changes in the retina, leading to retinal detachment, progressive loss of vision, and in some cases, retinal tears or holes.
• Myopia (nearsightedness): Individuals with Wagner syndrome often have severe myopia, which can contribute to vision problems.
• Cataracts: Some individuals with Wagner syndrome may develop cataracts, which can further impact vision.

Epidemiology:

Wagner syndrome is rare, and its exact prevalence is not well-established. It has been reported in several families worldwide.

Causes:

Wagner syndrome is caused by mutations in the CSPG2 gene, which encodes a protein called versican. Versican is involved in the development and maintenance of the extracellular matrix, including the vitreous gel and the retina. Mutations in the CSPG2 gene lead to abnormalities in the structure and composition of the vitreous gel and the retina, resulting in the characteristic features of Wagner syndrome.

Diagnosis:

Diagnosis of Wagner syndrome involves a thorough eye examination by an ophthalmologist. This may include a dilated eye exam to evaluate the vitreous gel and retina, as well as imaging studies such as optical coherence tomography (OCT) or ultrasound to assess the structural changes in the eye. Genetic testing may also be performed to identify mutations in the CSPG2 gene.

Treatment:

Treatment for Wagner syndrome is primarily supportive and aimed at managing the symptoms and complications of the condition. This may include:

• Regular eye exams: Monitoring the progression of retinal changes and addressing any complications such as retinal detachment or cataracts.
• Corrective lenses: Eyeglasses or contact lenses may be prescribed to improve vision, especially in individuals with myopia.
• Surgical interventions: In cases of retinal detachment or significant vision loss, surgical procedures such as vitrectomy or retinal detachment repair may be necessary.
• Genetic counseling: Individuals and families affected by Wagner syndrome may benefit from genetic counseling to understand the inheritance pattern and the risk of passing the condition to future generations.

Prevention:

As Wagner syndrome is a genetic disorder, prevention strategies primarily involve genetic counseling for families at risk of passing on the condition. Prenatal testing may be available for couples with a family history of Wagner syndrome to assess the risk of recurrence in future pregnancies.

In summary, Wagner syndrome is a rare genetic disorder characterized by abnormalities affecting the vitreous gel and the retina, leading to vision problems and an increased risk of retinal detachment. Early diagnosis, regular eye monitoring, and appropriate interventions are essential for managing the condition and preserving vision. Genetic counseling is crucial for affected individuals and their families to understand the condition and its inheritance pattern.