Congenital Blepharophimosis Associated with a Unique Generalized Myopathy

Abstract

Congenital blepharophimosis (Phimosis Palpebrum, von Ammon, 1841)¹is described as a general diminution of the palpebral aperture in all its dimensions but with the eyelids normally differentiated.²It is exemplified by Atkinson's report³of an adult woman with a palpebral aperture 8 mm. long and 3 mm. wide. Blepharophimosis was dominant in the family pedigrees studied by Dimitry,⁴Waardenburg,⁵and Klein.⁶In a series of 153 cases of ptosis of genetic origin, Edmund⁷found 12 cases of congenital blepharophimosis. After hereditary studies, these 12 cases were expanded to 23, of which 8 were isolated cases and 15 were present in 2 families. Eye defects associated with congenital blepharophimosis^2,6,7include strabismus, nystagmus, amblyopia, microphthalmus, anophthalmus, ptosis, epicanthus, inverse epicanthus, microcornea, and hypermetropia. Calmettes⁸reported patients with macular heterotopia associated with blepharophimosis. Other defects observed^2,7with blepharophimosis include asymmetry of the ears,