Maldonado Ramiro S

First CDH3-related HJMD case in a black patient: novel variants and diagnostic odyssey.

INTRODUCTION Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder caused by pathogenic variants in the CDH3 gene. Most reported cases have occurred in Middle Eastern and Asian populations, and individuals of African ancestry remain markedly underrepresented in inherited retinal di...