Hypotrichosis with Juvenile Macular Degeneration

Background and History: 

This is a rare disorder first reported in the second half of the 20th century. 

Clinical Correlations: 

Loss of scalp hair begins at about 3 months of age although there may be some regrowth during puberty.  Body hair elsewhere seems to be normal including the eyebrows and eyelashes.  The retina, the light sensing tissue in the back of the eye, is also abnormal and its rods and cones gradually deteriorate with age.  Vision loss begins in the first decade of life and progresses in many individuals to blindness. 


This disorder is transmitted in an autosomal recessive pattern.  Parents, who are unaffected, carry gene mutations which both have to transmit to their children before the disease is apparent.  Such parents have a 25% risk for each of their children to inherit this condition. 

Diagnosis and Prognosis: 

No treatment is available to cure this disease.  Low vision aids can be helpful, at least in most patients and at least for a period of time.  Ophthalmologists and dermatologists usually collaborate on the diagnosis.  There is no evidence for a shortening of lifespan and most individuals are otherwise healthy. 

Additional Information
Autosomal recessive