Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
November 2012
in “
Archives of Ophthalmology
”
TLDR A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
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.
