Abstract
Blefarofimozis pitozis epikantus inversus sendromu (BPES), zayıf levator fonksiyonu subtarsal kıvrım yokluğu ile karakterize orta-ciddi düzeyde simetrik pitozis, telekantus, epikantus inversus ve küçük palpebral fissürlerle kendini gösteren göz kapağı malformasyonları kompleksidir. Diğer göz bulguları üst orbital kenarların hipoplazisi, ambliyopi, alt kapakların lateralde ektropiyonu, şaşılık, refraktif kusurlar (myopi, hipermetropi ve astigmatizm), mikroftalmi ve punktumun lateral yerleşimi gibi bozukluklardır1. Sıklıkla minör fasial anomalilerle de birliktedir. Blefarofimozis birçok sendromda görülen malformasyonların bir parçası olabilirken nadiren izole konjenital bir malformasyon olarak da karşımıza çıkabilir2,3. BPES nadir görülür ve genellikle otozomal dominant kalıtım gösterir. Prematür Ovaryan Yetmezlik Sendromu (POYS) ile ilişkili olanı tip 1 iken POYS ile ilişkili olmayan alt tipi tip 2 olarak sınıflandırılır. Hem BPES1 hem BPES2 kromozom 3 üzerindeki FOXL2 genindeki mutasyonlardan kaynaklanmaktadır4. Tip 1’de Tip 2’den farklı olarak burun kökünün iyi gelişmemesi, düşük kulak, kısa filtrum çizgisi görülebilir. Tedavisi başlangıçta epikantus ve telekantusun düzeltilmesini takiben bilateral frontal kas süspansiyonunu içerir. Yaklaşık %50 oranında beraberinde bulunan ambliyopiyi tedavi etmek de oldukça önemlidir5.
Keywords
References
- Kohn R, Romano PE. Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus: A syndrome with no name. Am J Ophthalmol 1971;72(3):625-632.
- Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. Am J Med Genet 1993;47(6):901-906.
- Maat-Kievit JA, Milla PJ, Collins JE, Baraitser M, Winter RM. A case with blepharophimosis resembling Ohdo syndrome. Clin Dysmorphol 1994;3(2):125-127.
- Mari F, Giachino D, Russo L, Pilia G, Ariani F, et al. Blepharophimosis, ptosis, and epicanthus inversus syndrome: Clinical and molecular analysis of a case. J AAPOS 2006;10(3):279-280.
- Dawson EL, Hardy TG, Collin JR, Lee JP. The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus 2003;11(3):173-177.
- Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepharophimosis: A recommendation for early surgery in patients with severe ptosis. Clin Exp Ophthalmol 2003;31(2):138-142.
- Wu SY, Ma L, Tsai YJ, Kuo JZ. One-stage correction for blepharophimosis syndrome. Eye (Lond) 2008;22(3):380-388.
- Mingyu Z, Lehao W, Wuyan L, Qianwen W, Tailing W, et al. Improvement of one-stage comprehensive operation technique for blepharophimosis-ptosis-epicanthus inversus syndrome. Plast Reconstr Surg 2023;15.
- Jamshidian-Tehrani M, Cheraqpour K, Nezamslami A. Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies. Orbit 2023;42(2):196-200.
- Nabih O, Arab L, El Maaloum L, Allali B, El Kettani A. Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. Int J Surg Case Rep 2022;92:106845.
Abstract
References
- Kohn R, Romano PE. Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus: A syndrome with no name. Am J Ophthalmol 1971;72(3):625-632.
- Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. Am J Med Genet 1993;47(6):901-906.
- Maat-Kievit JA, Milla PJ, Collins JE, Baraitser M, Winter RM. A case with blepharophimosis resembling Ohdo syndrome. Clin Dysmorphol 1994;3(2):125-127.
- Mari F, Giachino D, Russo L, Pilia G, Ariani F, et al. Blepharophimosis, ptosis, and epicanthus inversus syndrome: Clinical and molecular analysis of a case. J AAPOS 2006;10(3):279-280.
- Dawson EL, Hardy TG, Collin JR, Lee JP. The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus 2003;11(3):173-177.
- Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepharophimosis: A recommendation for early surgery in patients with severe ptosis. Clin Exp Ophthalmol 2003;31(2):138-142.
- Wu SY, Ma L, Tsai YJ, Kuo JZ. One-stage correction for blepharophimosis syndrome. Eye (Lond) 2008;22(3):380-388.
- Mingyu Z, Lehao W, Wuyan L, Qianwen W, Tailing W, et al. Improvement of one-stage comprehensive operation technique for blepharophimosis-ptosis-epicanthus inversus syndrome. Plast Reconstr Surg 2023;15.
- Jamshidian-Tehrani M, Cheraqpour K, Nezamslami A. Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies. Orbit 2023;42(2):196-200.
- Nabih O, Arab L, El Maaloum L, Allali B, El Kettani A. Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. Int J Surg Case Rep 2022;92:106845.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Clinical Sciences (Other) |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | March 14, 2024 |
| Submission Date | January 6, 2024 |
| Acceptance Date | March 12, 2024 |
| Published in Issue | Year 2024 Issue: 1 |
