Is Hypotrichosis with Juvenile Macular Degeneration contagious?

Hypotrichosis with Juvenile Macular Degeneration (HJMD) is a rare genetic disorder characterized by the simultaneous occurrence of hair loss (hypotrichosis) and progressive vision loss due to macular degeneration. It is important to note that HJMD is not contagious and cannot be transmitted from one person to another.

HJMD is an inherited condition caused by mutations in the CYP4V2 gene. This gene provides instructions for producing an enzyme that is involved in the breakdown of fatty acids in the body. Mutations in this gene lead to the accumulation of certain lipids in the retina, which ultimately results in the degeneration of the macula, the central part of the retina responsible for sharp, central vision.

The hair loss associated with HJMD typically begins in childhood or adolescence and progresses over time. It primarily affects the scalp, eyebrows, and eyelashes. The macular degeneration, on the other hand, usually becomes apparent during adolescence or early adulthood and leads to a gradual loss of central vision.

Since HJMD is a genetic disorder, it is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carriers of a single copy of the mutated gene do not typically show symptoms but can pass the gene on to their children.

While HJMD can significantly impact an individual's quality of life due to both hair loss and vision loss, it is important to remember that it is not contagious. It is a genetic condition that is passed down through families and cannot be acquired or transmitted through contact or exposure to affected individuals.