CLINICAL SCIENCES Increased Levator Muscle Function by Supramaximal Resection in Patients With Blepharophimosis-Ptosis–Epicanthus Inversus Syndrome Christian E. Decock, MD; Akash D. Shah, MD; Christophe Delaey, MD, PhD; Ramses Forsyth, MD, PhD; Wouter Bauters, MD; Philippe Kestelyn, MD, PhD; Elfride De Baere, MD, PhD; Ilse Claerhout, MD, PhD Objective: To study the efficacy and clinical and ana- (SD) 1.9 (0.9) mm preoperatively to 7.4 (1.1) mm post- tomical results of supramaximal levator resection in pa- operatively (P value Ͻ.001). This improvement could be tients with blepharophimosis-ptosis–epicanthus inver- attributed to the presence of a very long and thin ten- sus syndrome (BPES) with severe congenital ptosis with don, as well as a striated muscle belly. This elongated apo- poor levator function (LF). neurosis inhibits the levator muscle from having suffi- cient impact on the vertical eyelid excursion. Methods: Eleven patients with molecularly proven BPES underwent supramaximal levator resection. Palpebral fis- Conclusions: We demonstrated that supramaximal le- sure height and LF were measured preoperatively and vator resection performed in patients with BPES not only postoperatively. results in good cosmetic appearance in terms of ptosis reduction in the majority of cases but also in a signifi- Results: All patients showed an excellent reduction in cant increase of the levator palpebrae superioris func- ptosis with a single intervention resulting in a clear vi- tion. An anatomical substrate was found to explain these sual axis. Palpebral fissure height improved from mean findings. To our knowledge, this is the first study to pro- (SD) 3.3 (0.7) mm preoperatively to 7.1 (0.9) mm post- vide evidence of a marked increase in LF in BPES due to operatively (P value Ͻ.001). Four patients underwent ad- resection of the elongated tendon with reinsertion of the ditional surgery because of cosmetic issues with eyelid muscle belly. height asymmetry. All patients showed a marked, con- sistent, and lasting improvement in LF, going from mean Arch Ophthalmol. 2011;129(8):1018-1022 HE BLEPHAROPHIMOSIS- To compensate for the ptosis, affected ptosis–epicanthus inversus individuals use the frontalis muscle, wrin- syndrome (BPES) is a com- kling the forehead to draw the eyebrows plex eyelid malformation upward, which results in a characteristic characterized by 4 major facial appearance. Moreover, in a com- characteristics that are present at birth: pensatory mechanism, they tilt their head T 3 blepharophimosis, ptosis, epicanthus in- backward into a chin-up position. versus, and telecanthus.1 The inheritance Surgical correction of the complex eye- of this syndrome is autosomal dominant. lid malformation, and in particular the se- Ptosis is a drooping of the upper eye- vere ptosis, is recommended not only for lid causing narrowing of the vertical pal- cosmetic reasons but also because of func- pebral fissure. Most patients with molecu- tional implications, since severe ptosis can larly proven BPES have a severe congenital cause amblyopia, strabismus, and refrac- Author Affiliations: tive errors.4 Departments of Ophthalmology In general, patients presenting with se- (Drs Decock, Delaey, Kesteyln, Video available online at vere congenital ptosis with poor levator and Claerhout), Pathology www.archophthalmol.com muscle function are treated with a fronta- (Dr Forsyth), and Radiology lis suspension using fascia lata (so-called Ͻ (Dr Bauters) and Center for ptosis with poor levator function (LF) ( 4 Crawford frontalis suspension).5-7 Some Medical Genetics (Dr De Baere), mm of vertical eyelid excursion). In indi- people, however, advocate the use of su- Ghent University Hospital, viduals with BPES, ptosis has been thought pramaximal levator resection in these Ghent, Belgium; and 8-10 Department of Orbit and to be secondary to dysplasia of the leva- cases. Excellent functional and aes- Oculoplasty, Bombay City Eye tor palpebrae superioris (LPS) muscle but thetic results have been demonstrated using Hospital, Mumbai, India very little is known about its actual ana- both techniques.11 Ptosis is significantly re- (Dr Shah). tomical substrate.2,3 duced in most patients; however, none of ARCH OPHTHALMOL / VOL 129 (NO. 8), AUG 2011 WWW.ARCHOPHTHALMOL.COM 1018 ©2011 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/27/2021 the patients with simple severe congenital ptosis with poor polyglactin 910 sutures placed on the anterior plane of the tar- LF have shown an increase in LF after their surgery. sus, approximately 2 mm from its superior border. Finally, the The objective of this study was to investigate the ef- skin was closed with single polyglactin 910 absorbable syn- ficacy as well as the clinical and anatomical results of su- thetic 6-0 sutures (Vicryl Rapide; Johnson & Johnson, New pramaximal levator resection in patients with BPES. The Brunswick, New Jersey). outcome of this procedure was studied in a unique co- STATISTICAL ANALYSIS hort of 11 consecutive patients with molecularly proven BPES with severe congenital ptosis and poor LF. Statistical analysis was performed using the t test. A P value of less than .05 was considered statistically significant. METHODS RESULTS PATIENTS A total of 22 eyelids from 11 patients underwent ptosis Eleven consenting consecutive patients with molecularly proven repair using supramaximal levator resection. Preopera- BPES were included in this study conducted at a tertiary ocu- tive and postoperative figures are summarized in the loplastic referral center. In general, the presence of the 4 ma- Table jor criteria (blepharophimosis, ptosis, epicanthus inversus, and . All patients had an LF of less than 4 mm. mostly telecanthus) was initially used to accept a clinical di- High-resolution MRI scan performed preoperatively agnosis of BPES. The fifth anatomical hallmark, namely the lower in 8 patients clearly revealed the presence of the LPS as eyelid malpositioning (data not shown), was also present in all a thin, well-distinct structure running from the tarsal plate cases. Mutation screening of the FOXL2 gene (sequencing and into the LPS/superior rectus complex. From there on, it deletion screening of the coding region) was performed to con- could no longer be identified running apically because firm the diagnosis of BPES in all individuals.12 The age of the of loss of signal intensity. patients at the time of ptosis surgery varied between 4 and 13 Supramaximal levator resection resulted in lifting up the years, partially depending on the moment it became possible upper eyelid from a mean (SD) preoperative vertical PF to correctly measure LF. The 13-year-old patient had never had height of 3.3 (0.7) mm to 7.1 (0.9) mm (P value Ͻ.001). surgery proposed prior to consultation with us. Surgical pro- cedures were performed between 2006 and 2009. This study The PF height ranged between 2 and 5 mm preoperatively was conducted following the tenets of Helsinki with formal eth- and between 6 and 9 mm postoperatively. All patients had ics committee approval. a free visual axis following a single procedure, eliminating the risk for amblyopia. In 7 of 11 patients, a satisfactory METHODS level of symmetry in PF height was obtained. Of the re- maining 4 patients, 3 had more than 1.5-mm asymmetry Ocular parameters measured during the preoperative and post- in PF width and underwent an additional unilateral fron- operative evaluation visits included vertical palpebral fissure talis suspension. The fourth patient underwent a bilateral (PF) height and LF (lid excursion from downgaze to upgaze frontalis suspension for cosmetic reasons. Although the PF while immobilizing the frontalis muscle). Prior to ptosis sur- height increased from 2 to 3 mm to 6 mm, the parents pre- gery, 8 patients underwent a high-resolution magnetic reso- ferred additional lifting of the upper eyelid. nance imaging (MRI) scan and the resected part of the LPS was Most striking was that a marked improvement in LF subjected to histopathological analysis. was noted in all our patients following supramaximal le- vator resection. This is demonstrated in the Figure. The SURGICAL PROCEDURE LF increased from a mean (SD) value of 1.9 (0.9) mm pre- operatively to 7.4 (1.1) mm postoperatively (P value All patients underwent a staged surgical repair of the complex Ͻ eyelid anomalies by the same oculoplastic surgeon (C.D.C.). .001). The mean (SD) improvement in LF was 5.4 (1.5) The first step consisted of a modified technique to treat the tele- mm, ranging from 2 up to 8 mm improvement. A video canthus, epicanthus inversus, and the malpositioning of the taken 6 weeks postoperatively (video, http://www lower eyelid (data not shown). This first step was then fol- .archophthalmol.com) clearly illustrates this increased LF. lowed by a supramaximal levator muscle resection at least 3 Results remained stable during a follow-up period of months later. at least 1 year. No postoperative complications were noted General anesthesia was used in all patients. Both eyes were and the well-known lagophthalmos following ptosis re- operated on during the same session. A skin approach at 6 mm pair in severe congenital ptosis was severely reduced, al- above the gray line was used. A skin orbicularis muscle flap most absent, in all our operated-on patients. was dissected free from the orbital septum. The septum was Histopathological analysis of the resected levator tis- incised 2 mm above its insertion on the levator aponeurosis. The preaponeurotic fat was pulled away with a Desmarres spoon, sue showed well-formed striated muscle fibers on the most resulting in a clear view on the anterior plane of the levator apical part (data not shown). This striated muscle com- muscle. The posterior plane was then dissected free from the ponent was connected to the tarsal plate by a very long, upper border of the tarsus and from the underlying conjunc- thin, disorganized collagenous structure suggestive of le- tiva.