Hypotrichosis With Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
December 2020
in “
Skin Appendage Disorders
”
TLDR Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
This case report described a family member in Saudi Arabia with hypotrichosis and severe visual impairment from early life, suspected to be due to hypotrichosis with juvenile macular dystrophy, an autosomal recessive disorder caused by a mutation in the CDH3 gene. Genetic testing confirmed the diagnosis, highlighting the importance of genetic testing for accurate diagnosis and genetic counseling.
