BPES | Encyclopedia MDPI

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BPES

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.

genetic conditions

References

Allen CE, Rubin PA. Blepharophimosis-ptosis-epicanthus inversus syndrome(BPES): clinical manifestation and treatment. Int Ophthalmol Clin. 2008Spring;48(2):15-23. doi: 10.1097/IIO.0b013e3181694eee. Review.
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M,Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D,Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F,Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008Nov;29(11):E205-19. doi: 10.1002/humu.20819.
Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangementsin BPES. Hum Mutat. 2009 Feb;30(2):158-69. doi: 10.1002/humu.20807. Review.
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H,Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E,Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, DePaepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism inblepharophimosis syndrome. Am J Hum Genet. 2005 Aug;77(2):205-18.
Choi KH, Kyung S, Oh SY. The factors influencing visual development inblepharophimosis-ptosis-epicanthus inversus syndrome. J Pediatr OphthalmolStrabismus. 2006 Sep-Oct;43(5):285-8. doi: 10.3928/01913913-20060901-03.
D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A,García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W,Shelling AN, Wieczorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E. FOXL2copy number changes in the molecular pathogenesis of BPES: unique cohort of 17deletions. Hum Mutat. 2010 May;31(5):E1332-47. doi: 10.1002/humu.21233.
Dipietromaria A, Benayoun BA, Todeschini AL, Rivals I, Bazin C, Veitia RA.Towards a functional classification of pathogenic FOXL2 mutations usingtransactivation reporter systems. Hum Mol Genet. 2009 Sep 1;18(17):3324-33. doi: 10.1093/hmg/ddp273.
Taylor A, Strike PW, Tyers AG. Blepharophimosis-ptosis-epicanthus inversussyndrome: objective analysis of surgical outcome in patients from a single unit. Clin Exp Ophthalmol. 2007 Apr;35(3):262-9.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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