title: The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).
abstract: A retrospective review was carried out of 204 patients with blepharophimosis, (blepharo) ptosis and epicanthus inversus syndrome (BPES). Of these, 94 (46%) had an autosomal dominant family history of BPES. Forty (20%) had manifest strabismus. Of these, 28 (70%) had esotropia, 10 (25%) had exotropia and 2 (5%) had hypertropia. Twelve (6%) patients had nystagmus. Seventy (34%) patients had a significant refractive error requiring spectacles. Twenty-one (30%) of these patients had anisometropic hypermetropia and 24 (34%) had anisometropic myopia. Forty-three patients had bilateral amblyopia and 40 had unilateral amblyopia, with 26 (65%) of these undergoing occlusion treatment. Of these, 14 had strabismus and refractive error, 7 refractive error only, 2 strabismus only and 3 neither refractive error nor strabismus. We conclude that there is a higher incidence of strabismus and refractive error in patients with BPES than in the normal population.
authors.affiliation: Moorfields Eye Hospital, City Road, London EC1V 2PD, England, U.K.
authors.forename: E L
authors.initials: EL
authors.lastname: Dawson
authors.forename: T G
authors.initials: TG
authors.lastname: Hardy
authors.forename: J R
authors.initials: JR
authors.lastname: Collin
authors.forename: J P
authors.initials: JP
authors.lastname: Lee
mesh_terms: D016569:Blepharophimosis / Q000150:complications*; D001763:Blepharoptosis / Q000150:complications*; D002648:Child; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D012030:Refractive Errors / Q000150:complications* / Q000453:epidemiology*; D012189:Retrospective Studies; D013285:Strabismus / Q000150:complications* / Q000453:epidemiology*; D013577:Syndrome