Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
November 2012
in “
Archives of Ophthalmology
”
Studysummary This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
The document discussed Hypotrichosis with Juvenile Macular Dystrophy (HJMD), a rare autosomal recessive disorder marked by short scalp hair from birth and progressive macular degeneration, leading to loss of central vision typically between the second and fourth decades of life. The study identified a homozygous deletion in the CDH3 gene as a cause of this condition.
