Blepharophimosis-ptosis-epicanthus inversus syndrome

Definition

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. The cardinal feature of this disease is a complex eyelid/ocular malformation such as blepharophimosis, ptosis, epicanthus inversus and telecanthus. The horizontal shortening of the palpebral aperture can lead to amblyopia. It is caused by mutations in FOXL2 gene that is involved in palpebral and ovarian development. Some of the female patients have premature ovarian failure (POF) and this condition is classified as BPES type I. BPES with normal ovarian function is referred to as BPES type II.

References:

[1]. Anthony G Tyers, et al. The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Orbit. 2011 Oct;30(5):199-201. [Content Brief]

[2]. Carla Graziadio, et al. Blepharophimosis-ptosis-epicanthus inversus syndrome. Pediatr Int. 2011 Jun;53(3):390-2. [Content Brief]

[3]. Jia-Yan Fan, et al. Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Mutagenesis. 2011 Mar;26(2):283-9. [Content Brief]

生物医学辞典

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