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Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. ^[1] Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened. Vignes (1889) probably first described this entity, a dysplasia of the eyelids.

Presentation

In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.

BPES

Blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the FOXL2 gene. ^[2]

References

^ Photo of blepharophimosis patient
^ OMIM article on Blepharophimosis

External links

Description of surgical steps in blepharophimosis

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1. 眼瞼下垂症の概要 overview of ptosis
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English Journal

Mutation spectrum of Fork-Head Transcriptional Factor Gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.

Kaur I, Hussain A, Naik MN, Murthy R, Honavar SG.SourceKallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre, Brien Holden Eye Research Centre, LV Prasad Eye Institute, Hyderabad 500034, India; inderjeet@lvpei.org.
The British journal of ophthalmology.2011 Jun;95(6):881-6. Epub 2011 Feb 16.
Aim The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type I and type II. The authors aimed to evaluate the involvement of FOXL2 in familial and sporadic cases of BPES in an Indian cohort. Methods The present cohor
PMID 21325395

Japanese Journal

病態を踏まえた先天性眼瞼疾患の治療に対する私の考え (特集形成外科における私のオリジナルセオリー)

野口昌彦
ペパーズ (56), 1-8, 2011-08-00
NAID 40018961501

Blepharophimosis-ptosis-epicanthus inversus syndrome

GRAZIADIO Carla,DE MORAES Felipe Nora,MACHADO ROSA Rafael Fabiano,GAZZOLA ZEN Paulo Ricardo,TRAVI Giovanni Marcos,WALDMAN Carolina,NEVES MEDINA Cristina Touguinha,DE BAERE Elfride,PASKULIN Giorgio Adriano
Pediatrics international : official journal of the Japan Pediatric Society 53(3), 390-392, 2011-06-01
NAID 10029558557