Nasser F, Kempf M, Kurtenbach A, et al. - In this report, researchers described two German siblings diagnosed with congenital hypotrichosis and juvenile macular dystrophy, an extremely rare syndrome affecting both hair growth and visual functions. Targeted Sanger sequencing and next-generation gene panel sequencing have been conducted. According to results, macular dystrophy was apparent in both patients' fundus, as was a central scotoma in the static visual field. The OCT images displayed atrophy in the outer layers and tubulations. The two siblings reported macular dystrophy and hypotrichosis in both eyes. In each patient, the identification of a homozygous CDH3 mutation confirms the syndromic entity of hypotrichosis with juvenile macular degeneration.