Hypotrichosis and Juvenile Macular Dystrophy-First Homozygous Family Case from Turkiye

Abstract

Hypotrichosis with juvenile macular dystrophy (HMJD) is a rare autosomal recessive disease that leads to blindness in the first thirty years of life. It is characterized by hypotrichosis and progressive macular degeneration. Approximately fifty cases of this very rare entity have been reported. HMJD is associated with mutations in the CDH3 gene. This article presents the case of a 4-year-old child who visited the dermatology clinic with hypotrichosis and underwent genetic screening due to clinical suspicion. His father, who was initially diagnosed with retinitis pigmentosa, was later identified as having HMJD. In both cases, the homozygous c.830del variant in the CDH3 gene was detected. Considering eye involvement, revealed bilateral pigmentary changes at the fovea and loss of the outer retinal layers. In the second case, marked pigmentary changes in the posterior pole bilateral photoreceptor layer irregularity and retinal pigment epithelium atrophy, and a full-thickness macular hole on the right eye and foveal atrophy on the left eye were found. This is the first report of homozygous Turkish father-daughter cases with HJMD. Our discoveries offer deeper insights into CDH3-associated HJMD, providing valuable knowledge that could enhance the expertise of both dermatologists and ophthalmologists.