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

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.

INTRODUCTION

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

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

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

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

CFEOM represents a large spectrum of restrictive strabismus syndromes with or without ptosis, which are heterogenous both phenotypically and genotypically1–4 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.5–8

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.49 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.