ABSTRACT
A retrospective review was carried out of patients with a diagnosis of Blepharophimosis, under the care of a single ophthalmologist, over a 20 year period.
There were 204 patients, 119 females and 85 males. One hundred and ten (54%) patients had no family history of Blepharophimosis and 94 (46%) patients had an autosomal dominant history, over a maximum of 4 generations.
Forty (20%) patients had manifest strabismus. Of these 28 (70%) had esotropia, 10 (25%) had exotropia and 2 (5%) had hypertropia. Thirteen (32.5%) of these patients had a positive family history of Blepharophimosis. Twelve (6%) patients had nystagmus. Seventy (34%) patients had a significant refractive error and glasses were prescribed. Twenty-one (30%) patients had anisometropic hypermetropia and 24 (34%) had anisometropic myopia. Twenty-six (13%) patients underwent occlusion treatment. Of these, 14 patients had strabismus and refractive error, 7 had refractive error only, 2 had strabismus only and 3 had no refractive error or strabismus.
We conclude that there is a higher incidence of strabismus and refractive error in patients with Blepharophimosis than in the normal population. We believe this is the first report to show this.
