CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

The document discussed a case of hypotrichosis and juvenile macular dystrophy (HJMD) in a 13-year-old Turkish girl, linked to a novel homozygous mutation (c.447_467del (p.149_156del)) in the CDH3 gene. The patient experienced gradual bilateral visual deterioration and significant hair loss, with normal eyebrows, eyelashes, teeth, nails, and limbs. Fundus examination revealed bilateral ring-shaped atrophy of the retinal pigment epithelium. The study highlighted the autosomal-recessive inheritance pattern, as both healthy parents and an older brother were heterozygous for the mutation. This case underscored the importance of genetic testing, genetic counseling, and early eye consultations for children with sparse hair, contributing to the understanding of the mutation spectrum in HJMD and the genotype-phenotype correlations in CDH3-related conditions.