Congenital hypotrichosis with juvenile macular dystrophy

Common Name(s)

Congenital hypotrichosis with juvenile macular dystrophy, HJMD

Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder that causes early-age hair loss and vision loss that begins in childhood and becomes worse with time (progressive). Affected individuals are either born without hair (congenital hypotrichosis) or lose it within the first few months of life. They also have noticeable vision issues by their teenage years. In people with HJMD, the center of the back of the eye (macula), which is responsible for central vision, becomes damaged over time. Symptoms can range from blurry or dark vision in early stages to total blindness later in life. Despite the name of the disorder, this condition has the potential to affect the entire back of the eye (retina), not just the macula.

HJMD is caused by changes (mutations) in the CDH3 gene and is an autosomal recessive disorder, meaning a person needs a mutation in both of their CDH3 copies to have the condition. Although there are no specific treatments for this disorder, general vision aids may be helpful. If you or a loved one has been diagnosed with HJMD, contact your doctor to discuss the possible treatment options available. Blindness support groups can provide additional information and connect you with other families affected by juvenile-onset vision loss.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital hypotrichosis with juvenile macular dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital hypotrichosis with juvenile macular dystrophy" returned 0 free, full-text research articles on human participants.

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The terms "Congenital hypotrichosis with juvenile macular dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.