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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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Year : 2012  |  Volume : 19  |  Issue : 4  |  Page : 416-418  

Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I

Department of Ophthalmology, Ain-Shams University, Cairo, Egypt

Date of Web Publication20-Oct-2012

Correspondence Address:
Hatem A Tawfik
MD, 5 Ibn Elnafis St., Off Makram Ebeid St. Nasr City, Cairo
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0974-9233.102764

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Fibrosis syndromes comprise a rare form of severe limitation of ocular motility. An 11-year-old girl was referred for the correction of eyelid retraction. The eyelid retraction occurred immediately following levator resection surgery performed by a plastic surgeon who missed the restrictive extraocular muscle abnormalities. On examination, both eyes were fixed in an infraducted position (20 prism diopters (Δ)), with a chin-up position and significant lagophthalmos. Bilateral 12-mm inferior rectus recession with adjustable sutures was performed, which resulted in significant reduction of lagophthalmos and elimination of the head tilt.

Keywords: Congenital Fibrosis of the Extraocular Muscles, Eyelid Retraction, Ptosis

How to cite this article:
Tawfik HA, Rashad MA. Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. Middle East Afr J Ophthalmol 2012;19:416-8

How to cite this URL:
Tawfik HA, Rashad MA. Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. Middle East Afr J Ophthalmol [serial online] 2012 [cited 2021 Apr 17];19:416-8. Available from: http://www.meajo.org/text.asp?2012/19/4/416/102764

   Introduction Top

Patients afflicted with congenital fibrosis of the extraocular muscles type I (CFEOM-I) usually suffer from a nonprogressive restrictive motility disorder, with or without ptosis, with the eyes usually fixed in an infraducted position. [1] Both strabismus surgery and ptosis correction are required to achieve an aesthetically pleasing and functionally acceptable result in CFEOM patients. [2]

   Case Report Top

An 11-year-old girl was referred by the operating surgeon for the management of 'simple congenital ptosis surgery overcorrection'. There was negative family history of ptosis and past history was remarkable only for levator resection surgery performed by a general facial plastic surgeon 2 months prior to presentation in Gaza. On examination both eyes were partially amblyopic with a visual acuity of 20/25 (OD) and 20/70 (OS). Both eyes were fixed in an infraducted position (20 Δ) and were immobile vertically but had limited motility horizontally with a peculiar chin-up position despite the retracted eyelids [Figure 1]. The patient neither displayed a Marcus Gunn jaw winking phenomena nor any synkinetic movements on attempted elevation. No preoperative pictures were available to evaluate the ptosis but the parents maintained that she always had severe bilateral congenital ptosis. Vertical palpebral fissure height was 20 mm (OS) and 18 mm (OD). The eyelid contour was excellent but she had mild lash ptosis in the medial half of the right upper eyelid. When instructed to forcefully close the eyelids, she had 8 mm of lagophthalmos with significant corneal exposure, and an absent Bell's phenomena, but curiously there was no evidence of corneal affection. A Schirmer 1 test (5 minutes without anesthesia) was performed, and the result was 10 mm wetting (OD), and 9 mm (OS). She was classified as a simplex case of CFEOM type I because of negative family history and the typical clinical picture.
Figure 1: Patient at presentation. Note the infraducted eyes and the significant chin-up position despite the retracted upper eyelids

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The patient underwent a single-stage adjustable bilateral 12-mm inferior rectus recession under general anesthesia. All adhesions and fibrous bands were released. Forced duction testing performed at the beginning of the procedure showed both eyes were completely immobile vertically. At the conclusion of the procedure, a forced duction test demonstrated that upwards motility was improved. To safeguard against lower eyelid retraction the lower eyelid was left on forehead traction for 48 hours. One week after surgery, the patient was orthophoric in the primary position with a residual 1 mm of upper eyelid retraction, significant reduction of lagophthalmos, and partial recovery of Bell's phenomena [Figure 2]. Neither eye required further adjustment.
Figure 2: One week after inferior rectus recession. Note the orthophoric eyes and the residual eyelid retraction

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Because of the acceptable final cosmetic outcome, the parents declined further eyelid lowering although they were informed of the persistent risk of corneal exposure because lagophthalmos was reduced but not completely relieved. Two years after surgery the patient remains orthophoric with no evidence of corneal exposure.

   Discussion Top

CFEOM represents a large spectrum of restrictive strabismus syndromes with or without ptosis, which are heterogenous both phenotypically and genotypically [1],[2],[3],[4] Patients afflicted with the classic CFEOM I are usually born with bilateral ptosis with eyes fixed in an infraducted position. Although CFEOM I is typically a familial disease inherited in an autosomal dominant pattern, isolated 'simplex' cases have been described. [4] As of 2002, concepts have changed. While CFEOM syndromes was classically thought to be due to a congenital abnormality of muscle development, I is now considered to have a neurologic etiology and the term congenital Cranial dysinnervation disorders (CCDD) was coined to encompass not just CFEOM but also Duane retraction syndrome, HOXA1 Spectrum, horizontal gaze palsy with progressive scoliosis, Möbius syndrome, hereditary congenital facial palsy, Marcus Gunn jaw winking, and even hereditary congenital ptosis. [5],[6],[7],[8]

This case report demonstrates that performing ptosis surgery alone in CFEOM does not have any beneficial effect even on the abnormal head posture as patients would still need to tilt their heads to compensate for the infraducted eyes [Figure 1]. In fact, it might even result in disastrous corneal complications due to significant lagophthalmos that would invariably ensue. How the cornea remained symptom free for 2 months after the ptosis surgery remains unknown although it is not unprecedented in CFEOM patients. [4],[9] An adequate tear film, and a diligent mother may help explain the absence of keratopathy after what could have been a catastrophic levator resection.

In conclusion, this unusual case illustrates the necessity for a careful assessment of ocular motility and the Bell's phenomenon in every case of congenital ptosis prior to surgical correction of the ptosis.

   References Top

1.Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC. CFEOM3: A new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci 1999;40:1687-94.  Back to cited text no. 1
2.Wei LC, Yang ML, Ma L, Hsu HN. The surgical outcome of strabismus in patients with general fibrosis syndrome. Chang Gung Med J 2005;28:159-65.  Back to cited text no. 2
3.Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet 2002;3:3.  Back to cited text no. 3
4.Yazdani A, Traboulsi EI. Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles. Ophthalmology 2004;111:1035-42.  Back to cited text no. 4
5.Oystreck DT, Engle EC, Bosley TM. Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol 2011;31:69-77.  Back to cited text no. 5
6.Gutowski NJ, Bosley TM, Engle EC. 110 [th] ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. Neuromuscul Disord 2003;13:573-8.  Back to cited text no. 6
7.Pandey PK, Dadeya S, Singh A, Vats P, Rathi N, Dangta S. Misinnervation in the third nerve palsy: Vertical synergistic divergence or consummate congenital bilateral asymmetrical Brown's syndrome with congenital ptosis? Indian J Ophthalmol 2010;58:555-6.  Back to cited text no. 7
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8.Gutowski NJ, Ellard S. The congenital cranial dysinnervation disorders (CCDDs). Advances in Clinical Neuroscience and Rehabilitation 2005;5:8-10.  Back to cited text no. 8
9.Stankoviæ B, Stojkoviæ M, Vlajkoviæ G, Zdravkoviæ I, Risoviæ D. Long-term outcome of strabismus and ptosis surgery in a mother and daughter with congenital fibrosis of extraocular muscles. Vojnosanit Pregl 2006;63:835-8.  Back to cited text no. 9


  [Figure 1], [Figure 2]


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