What is Hypotrichosis with Juvenile Macular Degeneration

Hypotrichosis with Juvenile Macular Degeneration (HJMD) is a rare genetic disorder that affects both hair growth and vision. It is characterized by the progressive loss of hair follicles, leading to sparse or absent hair on the scalp, eyebrows, and eyelashes. Additionally, individuals with HJMD experience a degeneration of the macula, the central part of the retina responsible for sharp, detailed vision.

HJMD typically manifests in childhood or adolescence, with hair loss becoming noticeable during the first few years of life. The macular degeneration, on the other hand, may cause a gradual decline in central vision, leading to difficulties with tasks such as reading, recognizing faces, and seeing fine details.

Although the exact cause of HJMD is not fully understood, it is believed to be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Genetic testing can help confirm the diagnosis.

While there is currently no cure for HJMD, management focuses on addressing the symptoms and providing support. This may include the use of prosthetic hair, visual aids, and low-vision rehabilitation to maximize remaining vision. Regular monitoring by healthcare professionals is crucial to ensure early intervention and appropriate care.