Author(s): Vicente LP, Finzi S, Susanna R Jr, Young TL. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study. Arq Bras Oftalmol. 2017 Jan-Feb;80(1):49-51. doi: 10.5935/0004-2749.20170013. PMID 28380103
Journal: Arquivos Brasileiros De Oftalmologia, Volume 80, Issue 1, 2017
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes. Genetic testing of the CDH3 gene revealed a homozygous gene variant at exon 6 (640A>T). This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.