Congenital blepharophimosis (Phimosis Palpebrum, von Ammon, 1841)1 is described as a general diminution of the palpebral aperture in all its dimensions but with the eyelids normally differentiated.2 It is exemplified by Atkinson's report3 of an adult woman with a palpebral aperture 8 mm. long and 3 mm. wide. Blepharophimosis was dominant in the family pedigrees studied by Dimitry,4 Waardenburg,5 and Klein.6 In a series of 153 cases of ptosis of genetic origin, Edmund7 found 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 blepharophimosis2,6,7 include strabismus, nystagmus, amblyopia, microphthalmus, anophthalmus, ptosis, epicanthus, inverse epicanthus, microcornea, and hypermetropia. Calmettes8 reported patients with macular heterotopia associated with blepharophimosis. Other defects observed2,7 with blepharophimosis include asymmetry of the ears,
SCHWARTZ O, JAMPEL RS. Congenital Blepharophimosis Associated with a Unique Generalized Myopathy. Arch Ophthalmol. 1962;68(1):52-57. doi:10.1001/archopht.1962.00960030056011