Knobloch syndrome
Knobloch Syndrome
Knobloch syndrome (pronounced: /ˈnɒblɒk/), is a rare, autosomal recessive, genetic disorder characterized by severe vision problems and occasional brain anomalies. The syndrome was first described by Dr. Knobloch and his team in 1971.
Etymology
The term "Knobloch syndrome" is derived from the name of the doctor who first described the condition, Dr. Knobloch. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".
Symptoms
The primary symptoms of Knobloch syndrome include severe myopia, retinal detachment, and macular degeneration. Other symptoms may include encephalocele, a condition where brain tissue protrudes from an abnormal opening in the skull, and occasional developmental delay.
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 collagen, a protein that provides structure and strength to body tissues.
Diagnosis
Diagnosis of Knobloch syndrome is based on clinical examination, genetic testing, and imaging studies such as MRI and CT scan.
Treatment
There is currently no cure for Knobloch syndrome. Treatment is focused on managing symptoms and may include surgery to repair retinal detachments, glasses or contact lenses to correct myopia, and regular monitoring of brain anomalies.
See Also
External links
- Medical encyclopedia article on Knobloch syndrome
- Wikipedia's article - Knobloch syndrome
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