Macular corneal dystrophy
Macular Corneal Dystrophy
Macular corneal dystrophy (pronunciation: ma-cu-lar cor-ne-al dis-tro-phy) is a rare, genetic eye disorder that primarily affects the cornea, the clear front surface of the eye.
Etymology
The term "macular" is derived from the Latin word "macula", meaning "spot", and "dystrophy" comes from the Greek words "dys", meaning "difficult", and "trophe", meaning "nourishment".
Definition
Macular corneal dystrophy is characterized by the accumulation of unsightly, opaque areas in the cornea, which can lead to severe vision impairment. These areas are caused by the buildup of a carbohydrate called keratan sulfate in the corneal cells.
Symptoms
The symptoms of macular corneal dystrophy typically begin in childhood or adolescence and may include blurred vision, photophobia (sensitivity to light), and eye pain.
Causes
Macular corneal dystrophy is caused by mutations in the CHST6 gene. This gene provides instructions for making an enzyme that helps process keratan sulfate. Mutations in the CHST6 gene disrupt the normal processing of keratan sulfate, leading to its accumulation in the cornea.
Treatment
There is currently no cure for macular corneal dystrophy. Treatment is focused on managing symptoms and may include the use of lubricating eye drops or ointments, contact lenses, or in severe cases, corneal transplantation.
Related Terms
- Cornea
- Keratan sulfate
- CHST6
- Blurred vision
- Photophobia
- Pain in the eye
- Contact lenses
- Corneal transplantation
External links
- Medical encyclopedia article on Macular corneal dystrophy
- Wikipedia's article - Macular corneal dystrophy
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