Brittle cornea syndrome
Brittle cornea syndrome (pronounced: /ˈbrɪtl ˈkɔːrnɪə ˈsɪndroʊm/) is a rare genetic disorder that affects the eyes, specifically the cornea. The cornea is the clear, dome-shaped surface that covers the front of the eye. In people with brittle cornea syndrome, the cornea is thin and fragile, making it prone to tears and ruptures. This can lead to severe vision loss or even blindness.
Etymology
The term "brittle cornea syndrome" is derived from the characteristics of the condition. "Brittle" refers to the fragility of the cornea, while "cornea" is the part of the eye affected, and "syndrome" indicates a group of symptoms that consistently occur together.
Symptoms
People with brittle cornea syndrome may experience a variety of symptoms, including:
- Visual impairment
- Photophobia (sensitivity to light)
- Keratoconus (thinning and bulging of the cornea)
- Keratoglobus (bulging of the cornea)
- Blue sclera (a bluish coloration of the whites of the eyes)
Causes
Brittle cornea syndrome is caused by mutations in the ZNF469 or PRDM5 genes. These genes provide instructions for making proteins that are involved in the formation of collagen, a protein that provides structure and strength to tissues and organs, including the cornea.
Diagnosis
Diagnosis of brittle cornea syndrome is based on clinical examination of the eyes and genetic testing to identify mutations in the ZNF469 or PRDM5 genes.
Treatment
There is currently no cure for brittle cornea syndrome. Treatment is focused on managing symptoms and preventing complications. This may include the use of protective eyewear and avoidance of activities that could lead to eye injury.
See also
External links
- Medical encyclopedia article on Brittle cornea syndrome
- Wikipedia's article - Brittle cornea syndrome
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