Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy

November 2012 in “ Archives of Ophthalmology ”

Stephanie Halford, R. J. Holt, Andrea H. Németh, Susan M. Downes

Hypotrichosis with Juvenile Macular Dystrophy HJMD short scalp hair CDH3 gene macular degeneration central vision loss short hair vision loss

TLDR A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

The document discussed Hypotrichosis with Juvenile Macular Dystrophy (HJMD), a rare autosomal recessive disorder marked by short scalp hair from birth and progressive macular degeneration, leading to loss of central vision typically between the second and fourth decades of life. The study identified a homozygous deletion in the CDH3 gene as a cause of this condition.

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Related Research

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research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy

15 citations, November 2012 in “Archives of Ophthalmology”

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

research Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings

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.