Do you know this syndrome?Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.
Congenital abnormalities; Hypotrichosis; vision disorders
