As it has previously been noted the main differential diagnostic of HJMD from an ophthalmological point of view is not only Stargardt’s disease, which is caused mainly by ABCA4 mutations [20], but any retinal dystrophy phenotype suggestive of CDH3, regardless of the hair phenotype [22]. This evidence concerns the gene ABCA4 and congenital hypotrichosis with juvenile macular dystrophy.