Macular corneal dystrophy is a rare eye disease that causes clouding of the central part of your cornea. It’s a hereditary condition that’s passed through families with certain mutations in the CHST6gene.
Macular corneal dystrophy is a rare but severe form of corneal dystrophy. More specifically, it’s a type of stromal corneal dystrophy.
Corneal dystrophy is a group of conditions that cause opaque spots on your cornea. Your cornea is a layer of clear tissue that covers the front of your eye. Stromal corneal dystrophies are characterized by spots on your stroma, the thickest layer of your cornea.
Macular corneal dystrophy is a recessive genetic condition, meaning it only develops if you receive an associated gene from both birth parents. It leads to progressive haziness in your vision that can eventually progress to severe low vision.
Let’s take a deeper look at macular corneal dystrophy, including how it’s managed and the outlook for people with this condition.
Macular corneal dystrophy causes progressive loss of vision in
Other signs and
Macular corneal dystrophy is caused by a recessive mutation in the gene CHST6. “Recessive mutation” means that you need to receive the mutation from both birth parents to develop the disease. Most other types of corneal dystrophy are dominant, meaning they develop when you receive an associated gene from only one birth parent.
Macular corneal dystrophy falls into a category of diseases called corneal dystrophies. These conditions affect fewer than
More specifically, macular corneal dystrophy falls into a subcategory called stromal corneal dystrophies. In a 10-year study performed by researchers at McGill University in Montreal, researchers found that 27 of 93 (29%) of corneal dystrophies seen at their clinic over a 10-year period were stromal corneal dystrophies.
Macular corneal dystrophy only makes up a small percentage of stromal corneal dystrophies. In an older 2011 study, researchers estimated that it affects 9.7 per million people in the United States.
Macular corneal dystrophy can cause severe vision loss as it progresses due to the development of opaque spots on your cornea. It can also cause corneal ulcers, which can lead to
Symptoms of macular corneal dystrophy often start in childhood. It’s essential for your child to undergo regular eye exams to identify visual difficulties early.
The American Optometric Association recommends a comprehensive eye exam for children at the following frequencies:
|Children at low risk
|Children at high risk
|Birth to age 2 years
|At 6–12 months
|At 6–12 months or as recommended
|Age 3–5 years
|At least once between 3–5 years
|At least once between 3–5 years or as recommended
|Age 6–17 years
|Before first grade and annually after
|Before first grade and annually after, or as recommended
No medical therapy has been developed to slow the progress of macular corneal dystrophy. Researchers are investigating gene replacement therapy, which involves delivering the missing gene to cells in your cornea.
A cornea transplant, or keratoplasty, may help improve vision. In a
Macular corneal dystrophy is a genetic condition. There’s no known way to prevent it.
Here are some frequently asked questions that people have about macular corneal dystrophy.
How serious is corneal dystrophy?
Macular corneal dystrophy can lead to severe loss of vision. Most people have serious vision loss by their
Does macular dystrophy cause blindness?
Macular dystrophy can lead to blindness when the disease progresses to an advanced stage.
How fast does corneal dystrophy progress?
Macular corneal dystrophy usually onsets before the age of 10 and usually causes severe vision loss
What’s the difference between macular and granular corneal dystrophy?
Granular corneal dystrophy is a type of epithelial-stromal dystrophy and also affects the outermost layer of the cornea. It usually causes vision loss in your
Macular corneal dystrophy doesn’t have a cure, but symptoms can be managed with treatments such as eye drops and ointment. A corneal transplantation may help improve vision by removing the cloudy spots on your cornea.