Knobloch

Knobloch Syndrome is a rare genetic disorder characterized by severe vision problems and possible brain anomalies. It is named after the German ophthalmologist, Dr. Knobloch, who first described the condition in 1971.

Symptoms and Signs

The primary symptom of Knobloch Syndrome is retinal detachment, which can lead to severe vision loss or blindness. Other symptoms may include myopia (nearsightedness), macular degeneration, and cataracts. Some individuals with Knobloch Syndrome may also have brain anomalies, such as encephalocele (a protrusion of the brain tissue through an opening in the skull).

Causes

Knobloch Syndrome is caused by mutations in the COL18A1 gene. This gene provides instructions for making a protein that is involved in the formation of blood vessels and the maintenance of tissues that support the eyes and brain.

Diagnosis

Diagnosis of Knobloch Syndrome is based on clinical examination and confirmed by genetic testing. The presence of severe myopia and retinal detachment in infancy or early childhood may suggest the diagnosis.

Treatment

There is currently no cure for Knobloch Syndrome. Treatment is focused on managing the symptoms and may include surgery to repair retinal detachments, glasses or contact lenses to correct myopia, and regular monitoring for the development of cataracts or other eye problems.

Prognosis

The prognosis for individuals with Knobloch Syndrome varies. Some individuals may have normal intelligence and lead relatively normal lives, while others may have severe vision loss and other health problems.

See Also

• Genetic disorders
• Retinal detachment
• Myopia
• Cataracts
• Encephalocele

References

Knobloch Resources
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