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Figure. Two patients with blepharophimosis-ptosis–epicanthus inversus syndrome before and after surgery. A and B, Preoperatively. Note the 4 major clinical characteristics: (1) blepharophimosis, (2) ptosis, (3) epicanthus inversus, and (4) telecanthus. C and D, After surgical correction (telecanthus-ptosis) in primary gaze. E-H, Vertical eyelid excursion going from downgaze to upgaze following levator resection showing a good postoperative levator muscle function.

Figure. Two patients with blepharophimosis-ptosis–epicanthus inversus syndrome before and after surgery. A and B, Preoperatively. Note the 4 major clinical characteristics: (1) blepharophimosis, (2) ptosis, (3) epicanthus inversus, and (4) telecanthus. C and D, After surgical correction (telecanthus-ptosis) in primary gaze. E-H, Vertical eyelid excursion going from downgaze to upgaze following levator resection showing a good postoperative levator muscle function.

Table. Summary of Preoperative and Postoperative Details in Patients With BPES Operated on for Severe Ptosis Using Supramaximal Levator Resection
Table. Summary of Preoperative and Postoperative Details in Patients With BPES Operated on for Severe Ptosis Using Supramaximal Levator Resection
1.
Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome).  J Med Genet. 1988;25(1):47-51PubMedArticle
2.
Allen CE, Rubin PA. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment.  Int Ophthalmol Clin. 2008;48(2):15-23PubMedArticle
3.
Strømme P, Sandboe F. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).  Acta Ophthalmol Scand. 1996;74(1):45-47PubMedArticle
4.
Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepharophimosis: a recommendation for early surgery in patients with severe ptosis.  Clin Experiment Ophthalmol. 2003;31(2):138-142PubMedArticle
5.
Crawford JS. Repair of ptosis using frontalis muscle and fascia lata: a 20-year review.  Ophthalmic Surg. 1977;8(4):31-40PubMed
6.
Morax S, Benia L. Suspension of the eyelid to the frontal muscle in the surgery of ptosis: technic and indications [in French].  J Fr Ophtalmol. 1986;9(6-7):461-470PubMed
7.
Reny A, George JL. Treatment of severe ptosis by suspension of the upper eyelid using the autogenic frontal muscle and fascia lata: analysis of 34 interventions [in French].  J Fr Ophtalmol. 1983;6(10):797-807PubMed
8.
Pak J, Shields M, Putterman AM. Superior tarsectomy augments super-maximum levator resection in correction of severe blepharoptosis with poor levator function.  Ophthalmology. 2006;113(7):1201-1208PubMedArticle
9.
Press UP, Hübner H. Maximal levator resection in the treatment of unilateral congenital ptosis with poor levator function.  Orbit. 2001;20(2):125-129PubMedArticle
10.
Mauriello JA, Wagner RS, Caputo AR, Natale B, Lister M. Treatment of congenital ptosis by maximal levator resection.  Ophthalmology. 1986;93(4):466-469PubMed
11.
Epstein GA, Putterman AM. Super-maximum levator resection for severe unilateral congenital blepharoptosis.  Ophthalmic Surg. 1984;15(12):971-979PubMed
12.
Beysen D, De Jaegere S, Amor D,  et al.  Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.  Hum Mutat. 2008;29(11):E205-E219PubMedArticle
13.
Taylor A, Strike PW, Tyers AG. Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unit.  Clin Experiment Ophthalmol. 2007;35(3):262-269PubMedArticle
14.
Tronina SA, Bobrova NF, Khrinenko VP. Clinical and anatomical substantiation of levator resection in the complex surgical treatment of BPES.  Orbit. 2006;25(1):5-10PubMedArticle
15.
Berke RN, Wadsworth JA. Histology of levator muscle in congenital and acquired ptosis.  AMA Arch Ophthalmol. 1955;53(3):413-428PubMedArticle
Clinical Sciences
Aug 2011

Increased Levator Muscle Function by Supramaximal Resection in Patients With Blepharophimosis-Ptosis–Epicanthus Inversus Syndrome

Author Affiliations

Author Affiliations: Departments of Ophthalmology (Drs Decock, Delaey, Kesteyln, and Claerhout), Pathology (Dr Forsyth), and Radiology (Dr Bauters) and Center for Medical Genetics (Dr De Baere), Ghent University Hospital, Ghent, Belgium; and Department of Orbit and Oculoplasty, Bombay City Eye Hospital, Mumbai, India (Dr Shah).

Arch Ophthalmol. 2011;129(8):1018-1022. doi:10.1001/archophthalmol.2011.218
Abstract

Objective To study the efficacy and clinical and anatomical results of supramaximal levator resection in patients with blepharophimosis-ptosis–epicanthus inversus syndrome (BPES) with severe congenital ptosis with poor levator function (LF).

Methods Eleven patients with molecularly proven BPES underwent supramaximal levator resection. Palpebral fissure height and LF were measured preoperatively and postoperatively.

Results All patients showed an excellent reduction in ptosis with a single intervention resulting in a clear visual axis. Palpebral fissure height improved from mean (SD) 3.3 (0.7) mm preoperatively to 7.1 (0.9) mm postoperatively (P value <.001). Four patients underwent additional surgery because of cosmetic issues with eyelid height asymmetry. All patients showed a marked, consistent, and lasting improvement in LF, going from mean (SD) 1.9 (0.9) mm preoperatively to 7.4 (1.1) mm postoperatively (P value <.001). This improvement could be attributed to the presence of a very long and thin tendon, as well as a striated muscle belly. This elongated aponeurosis inhibits the levator muscle from having sufficient impact on the vertical eyelid excursion.

Conclusions We demonstrated that supramaximal levator resection performed in patients with BPES not only results in good cosmetic appearance in terms of ptosis reduction in the majority of cases but also in a significant increase of the levator palpebrae superioris function. An anatomical substrate was found to explain these findings. To our knowledge, this is the first study to provide evidence of a marked increase in LF in BPES due to resection of the elongated tendon with reinsertion of the muscle belly.

The blepharophimosis-ptosis–epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by 4 major characteristics that are present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus.1 The inheritance of this syndrome is autosomal dominant.

Ptosis is a drooping of the upper eyelid causing narrowing of the vertical palpebral fissure. Most patients with molecularly proven BPES have a severe congenital ptosis with poor levator function (LF) (<4 mm of vertical eyelid excursion). In individuals with BPES, ptosis has been thought to be secondary to dysplasia of the levator palpebrae superioris (LPS) muscle but very little is known about its actual anatomical substrate.2,3

To compensate for the ptosis, affected individuals use the frontalis muscle, wrinkling the forehead to draw the eyebrows upward, which results in a characteristic facial appearance. Moreover, in a compensatory mechanism, they tilt their head backward into a chin-up position.3

Surgical correction of the complex eyelid malformation, and in particular the severe ptosis, is recommended not only for cosmetic reasons but also because of functional implications, since severe ptosis can cause amblyopia, strabismus, and refractive errors.4

In general, patients presenting with severe congenital ptosis with poor levator muscle function are treated with a frontalis suspension using fascia lata (so-called Crawford frontalis suspension).57 Some people, however, advocate the use of supramaximal levator resection in these cases.810 Excellent functional and aesthetic results have been demonstrated using both techniques.11 Ptosis is significantly reduced in most patients; however, none of the patients with simple severe congenital ptosis with poor LF have shown an increase in LF after their surgery.

The objective of this study was to investigate the efficacy as well as the clinical and anatomical results of supramaximal levator resection in patients with BPES. The outcome of this procedure was studied in a unique cohort of 11 consecutive patients with molecularly proven BPES with severe congenital ptosis and poor LF.

METHODS
PATIENTS

Eleven consenting consecutive patients with molecularly proven BPES were included in this study conducted at a tertiary oculoplastic referral center. In general, the presence of the 4 major criteria (blepharophimosis, ptosis, epicanthus inversus, and mostly telecanthus) was initially used to accept a clinical diagnosis of BPES. The fifth anatomical hallmark, namely the lower eyelid malpositioning (data not shown), was also present in all cases. Mutation screening of the FOXL2 gene (sequencing and deletion screening of the coding region) was performed to confirm the diagnosis of BPES in all individuals.12 The age of the patients at the time of ptosis surgery varied between 4 and 13 years, partially depending on the moment it became possible to correctly measure LF. The 13-year-old patient had never had surgery proposed prior to consultation with us. Surgical procedures were performed between 2006 and 2009. This study was conducted following the tenets of Helsinki with formal ethics committee approval.

Ocular parameters measured during the preoperative and postoperative evaluation visits included vertical palpebral fissure (PF) height and LF (lid excursion from downgaze to upgaze while immobilizing the frontalis muscle). Prior to ptosis surgery, 8 patients underwent a high-resolution magnetic resonance imaging (MRI) scan and the resected part of the LPS was subjected to histopathological analysis.

SURGICAL PROCEDURE

All patients underwent a staged surgical repair of the complex eyelid anomalies by the same oculoplastic surgeon (C.D.C.). The first step consisted of a modified technique to treat the telecanthus, epicanthus inversus, and the malpositioning of the lower eyelid (data not shown). This first step was then followed by a supramaximal levator muscle resection at least 3 months later.

General anesthesia was used in all patients. Both eyes were operated on during the same session. A skin approach at 6 mm above the gray line was used. A skin orbicularis muscle flap was dissected free from the orbital septum. The septum was incised 2 mm above its insertion on the levator aponeurosis. The preaponeurotic fat was pulled away with a Desmarres spoon, resulting in a clear view on the anterior plane of the levator muscle. The posterior plane was then dissected free from the upper border of the tarsus and from the underlying conjunctiva. The medial and lateral levator horns were cut at a 45° angle to avoid the superior oblique tendon and the lacrimal gland and ductules, respectively. This also allowed us to free the levator muscle even further and permitted a maximal or supramaximal levator resection (defined as 30 mm or more measured during surgery). This was followed by reinsertion of the LPS remnant on the tarsus with 2 double-armed absorbable 5-0 polyglactin 910 sutures placed on the anterior plane of the tarsus, approximately 2 mm from its superior border. Finally, the skin was closed with single polyglactin 910 absorbable synthetic 6-0 sutures (Vicryl Rapide; Johnson & Johnson, New Brunswick, New Jersey).

STATISTICAL ANALYSIS

Statistical analysis was performed using the t test. A P value of less than .05 was considered statistically significant.

RESULTS

A total of 22 eyelids from 11 patients underwent ptosis repair using supramaximal levator resection. Preoperative and postoperative figures are summarized in the Table. All patients had an LF of less than 4 mm.

High-resolution MRI scan performed preoperatively in 8 patients clearly revealed the presence of the LPS as a thin, well-distinct structure running from the tarsal plate into the LPS/superior rectus complex. From there on, it could no longer be identified running apically because of loss of signal intensity.

Supramaximal levator resection resulted in lifting up the upper eyelid from a mean (SD) preoperative vertical PF height of 3.3 (0.7) mm to 7.1 (0.9) mm (P value <.001). The PF height ranged between 2 and 5 mm preoperatively and between 6 and 9 mm postoperatively. All patients had a free visual axis following a single procedure, eliminating the risk for amblyopia. In 7 of 11 patients, a satisfactory level of symmetry in PF height was obtained. Of the remaining 4 patients, 3 had more than 1.5-mm asymmetry in PF width and underwent an additional unilateral frontalis suspension. The fourth patient underwent a bilateral frontalis suspension for cosmetic reasons. Although the PF height increased from 2 to 3 mm to 6 mm, the parents preferred additional lifting of the upper eyelid.

Most striking was that a marked improvement in LF was noted in all our patients following supramaximal levator resection. This is demonstrated in the Figure. The LF increased from a mean (SD) value of 1.9 (0.9) mm preoperatively to 7.4 (1.1) mm postoperatively (P value <.001). The mean (SD) improvement in LF was 5.4 (1.5) mm, ranging from 2 up to 8 mm improvement. A video taken 6 weeks postoperatively (video) clearly illustrates this increased LF.

Results remained stable during a follow-up period of at least 1 year. No postoperative complications were noted and the well-known lagophthalmos following ptosis repair in severe congenital ptosis was severely reduced, almost absent, in all our operated-on patients.

Histopathological analysis of the resected levator tissue showed well-formed striated muscle fibers on the most apical part (data not shown). This striated muscle component was connected to the tarsal plate by a very long, thin, disorganized collagenous structure suggestive of levator aponeurosis.

COMMENT

In simple severe congenital ptosis with poor LF, some people advocate frontalis suspension with autogenous fascia lata (Crawford frontalis suspension), whereas others favor supramaximal resection. Both these interventions will increase PF height and reduce ptosis; however, neither will result in a recovery of LF.

Almost all patients with molecularly proven BPES described have a severe ptosis and a very poor to almost absent LF. The decreased LF in patients with BPES was formerly believed to be due to dysplasia of the posterior LPS.2,3

In this study, we set out to examine the efficacy as well as the clinical and anatomical results of (supra)maximal levator resection for the treatment of ptosis in 11 patients with molecularly proven BPES. Following this procedure, all our patients had an excellent reduction in ptosis with a free visual axis, reducing the risk for amblyopia. Seven patients obtained a satisfactory cosmetic result with a single intervention, whereas 4 others needed additional frontalis suspension for cosmetic reasons only (PF width asymmetry or insufficient reduction of ptosis from a cosmetic point of view). The rate of reintervention is not that much different from that found by Taylor et al13 using the Crawford frontalis suspension technique for ptosis repair. In the latter study, reintervention was required in 2 of 13 patients, also for cosmetic purposes.

The most striking finding in our study, however, was the marked improvement in LF obtained in all operated-on eyelids. Mean (SD) LF was 1.9 (0.9) mm preoperatively and increased to 7.4 (1.1) mm postoperatively. The mean (SD) value of muscle function improvement following surgery was 5.4 (1.5) mm. Improvement in LF, almost absent lagophthalmos, and fair blinking gave these eyelids an almost physiological behavior (as illustrated in the video taken 6 weeks postoperatively). This is a very unusual finding that, to the best of our knowledge, has never been reported in simple severe congenital ptosis.

Tronina et al14 previously described a novel, complex, 1-stage surgical treatment of 51 patients with BPES, including shortening of the medial canthal tendon, resection of the tarsus and levator muscle, and skin plasty. They also noted a similar marked increase in LF following surgery (average increase in LF of 5.6 mm).

Improvement in LF after ptosis correction in simple severe congenital ptosis is never seen. In 1955, Berke and Wadsworth showed in their hallmark article15 on the histopathological findings in simple severe congenital ptosis that the severe ptosis is due to absence of levator striated muscle fibers replaced by a fatty degeneration. Consequently, shortening of this (nonmuscular) structure can never increase LF.

The marked and unexpected improvement in levator muscle function seen after supramaximal LPS resection in patients with BPES prompted us to search for the anatomical substrate of this finding. We investigated 8 patients with high-resolution 3-T MRI with supercoil and we also performed a detailed anatomical and histopathological examination of the resected LPS.

These MRI findings offer an explanation for the surgical findings reported herein. A thorough workup revealed the presence of well-formed striated muscle in the most apical part of the levator muscle. In comparison with a normally functioning eyelid, however, this muscle belly was located at 20 to 25 mm instead of 10 mm from the insertion of the tarsal plate, much deeper into the orbit. On histopathological analysis, striated muscle fibers are found in patients with BPES, unlike the fatty degeneration typically seen in patients with simple severe congenital ptosis and a similar poor LF.

By performing supramaximal levator resection, the majority of tissue resected is in fact the aponeurosis like the anterior part of the muscle. After eliminating this tendon (that is too long), and after reinserting the rest of the LPS, the presence of the striated LPS muscle component provokes a marked increase in the LF.

Although LF in patients with BPES is increased after supramaximal resection, it does not attain normal values. We hypothesize that this is probably due to a maldevelopment of the muscle. If it were just a matter of deeper localization into the orbit than normal (on a tendon of 20 to 25 mm in comparison with a 10-mm tendon in normal individuals), one would expect a normal LF in combination with the severe ptosis as is classically seen in aponeurotic ptosis (long tendon, ptosis, but normal LF).

The tendon of the LPS in patients with BPES is too long and thin, thereby impairing the already subnormally developed levator muscle even more. Resecting the elongated aponeurosis brings the levator muscle in a more anterior and therefore more physiological position. Because the levator muscle is now connected more directly onto the tarsal plate, it can regain some impact on the eyelid position, resulting in a fair motility. Thus, our findings might indicate that the decreased LF in patients with BPES is not due to dysplasia of the posterior LPS, as was generally accepted, but is probably due to a congenital malformation at the level of the anterior aponeurosis, sparing to a certain extent the levator (striated) muscle.

In conclusion, we demonstrated that supramaximal levator resection in patients with BPES resulted in marked improvement of muscle function and was able to obtain good cosmetic appearance in most patients. This novel insight into the treatment of the complex eyelid malformation in BPES will have an important impact on future surgical management of this condition. It can be anticipated that future randomized clinical trials will further sustain these important findings.

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Article Information

Correspondence: Christian E. Decock, MD, Department of Ophthalmology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium (christian.decock@ugent.be).

Submitted for Publication: July 26, 2010; final revision received December 7, 2010; accepted December 15, 2010.

Financial Disclosure: None reported.

References
1.
Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome).  J Med Genet. 1988;25(1):47-51PubMedArticle
2.
Allen CE, Rubin PA. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment.  Int Ophthalmol Clin. 2008;48(2):15-23PubMedArticle
3.
Strømme P, Sandboe F. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).  Acta Ophthalmol Scand. 1996;74(1):45-47PubMedArticle
4.
Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepharophimosis: a recommendation for early surgery in patients with severe ptosis.  Clin Experiment Ophthalmol. 2003;31(2):138-142PubMedArticle
5.
Crawford JS. Repair of ptosis using frontalis muscle and fascia lata: a 20-year review.  Ophthalmic Surg. 1977;8(4):31-40PubMed
6.
Morax S, Benia L. Suspension of the eyelid to the frontal muscle in the surgery of ptosis: technic and indications [in French].  J Fr Ophtalmol. 1986;9(6-7):461-470PubMed
7.
Reny A, George JL. Treatment of severe ptosis by suspension of the upper eyelid using the autogenic frontal muscle and fascia lata: analysis of 34 interventions [in French].  J Fr Ophtalmol. 1983;6(10):797-807PubMed
8.
Pak J, Shields M, Putterman AM. Superior tarsectomy augments super-maximum levator resection in correction of severe blepharoptosis with poor levator function.  Ophthalmology. 2006;113(7):1201-1208PubMedArticle
9.
Press UP, Hübner H. Maximal levator resection in the treatment of unilateral congenital ptosis with poor levator function.  Orbit. 2001;20(2):125-129PubMedArticle
10.
Mauriello JA, Wagner RS, Caputo AR, Natale B, Lister M. Treatment of congenital ptosis by maximal levator resection.  Ophthalmology. 1986;93(4):466-469PubMed
11.
Epstein GA, Putterman AM. Super-maximum levator resection for severe unilateral congenital blepharoptosis.  Ophthalmic Surg. 1984;15(12):971-979PubMed
12.
Beysen D, De Jaegere S, Amor D,  et al.  Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.  Hum Mutat. 2008;29(11):E205-E219PubMedArticle
13.
Taylor A, Strike PW, Tyers AG. Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unit.  Clin Experiment Ophthalmol. 2007;35(3):262-269PubMedArticle
14.
Tronina SA, Bobrova NF, Khrinenko VP. Clinical and anatomical substantiation of levator resection in the complex surgical treatment of BPES.  Orbit. 2006;25(1):5-10PubMedArticle
15.
Berke RN, Wadsworth JA. Histology of levator muscle in congenital and acquired ptosis.  AMA Arch Ophthalmol. 1955;53(3):413-428PubMedArticle
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