Congenital sparse scalp hair and progressive vision loss are hallmarks of hypotrichosis with juvenile macular dystrophy (HJMD), a rare autosomal recessive condition. We present a rare case of HJMD from Saudi Arabia. A six-year-old Saudi girl, born to first-cousin consanguineous parents, presented with sparse scalp hair growth from birth and decreased night vision from one year of age. Full-field electroretinography (ffERG) suggested cone-rod dysfunction. Fundus photographs showed pigmentary degenerative changes around the macular area and mid-periphery. HJMD was suspected. A homozygous missense mutation, c. 1918T>G (p. Cys640Gly), was discovered in exon 4 (NM₀01793. 5) of the CDH3 gene by whole-exome sequencing. Patients with these clinical characteristics should be evaluated for HJMD, a rare genetic cause of hypotrichosis and macular degeneration. Although several mutations have been reported in Saudi Arabia, the CDH3 c. 1918T>G variant identified in this patient further expands the understanding of the genetic spectrum of HJMD in the region.
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Danish et al. (Mon,) studied this question.
www.synapsesocial.com/papers/69d894ad6c1944d70ce05a35 — DOI: https://doi.org/10.7759/cureus.106554
Enam Danish
Rola Alsulami
Hamza Baeshen
Cureus
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