TLDR A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
The study investigated the molecular basis of hypotrichosis in two Arab Muslim siblings with sparse and short hair but no visual symptoms. Mutation analysis revealed a novel nonsense mutation (Y615X) in the CDH3 gene, which is known to cause hypotrichosis with juvenile macular dystrophy (HJMD). Despite normal visual acuity, significant macular degenerative changes were observed. The findings suggested that patients with congenital hypotrichosis should have thorough fundus examinations to detect pigmentary macular changes indicative of a CDH3 mutation.
Cited in this study
2 / 2 results
19 citations
,
June 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
9 citations
,
September 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
