Soheil Daftarian, BS; Kimberly G. Yen, MD


December 27, 2011

Clinical Presentation

An 8-year-old girl was brought to the eye clinic by her mother with a chief complaint of photophobia in both eyes for the past 5 years. The patient's mother expressed concern for the girl's droopy eyelids and proclivity for a chin-up head position since birth. The patient reported good visual acuity with glasses and denied eye pain, redness, or discharge. The remainder of review of systems was negative.

The patient was ex-full-term, with no prenatal complications and a normal spontaneous vaginal delivery. She met all normal developmental milestones and her medical history was unremarkable.

The child's family history was notable for multiple relatives who were similarly affected with bilateral ptosis and a chin-up head posture. Affected family members included the patient's brother, mother, and grandfather (Figure 1).

Figure 1. The patient's pedigree chart reveals similarly affected individuals within each of the previous 3 consecutive generations.

On examination, the patient's best corrected visual acuity was 20/25 with negligible refractive error in both eyes. She presented with a 30° chin-up head position when viewing objects and marked bilateral ptosis (Figure 2). Ocular motility examination was notable for severe vertical restriction, moderate horizontal restriction, and aberrant convergence on attempted upgaze in both eyes (Figure 3). Slit-lamp examination showed a small central anterior stromal scar (Salzman nodule) in the left eye. On stereopsis examination with the Titmus test, the patient showed no sensitivity to disparate binocular stimuli when presented with fly, animal, or circle tests. The remainder of the ocular examination was noncontributory.

Figure 2. The patient presented to the clinic with a chin-up head position and marked bilateral ptosis.

Figure 3. The patient's attempt at upgaze reveals severe vertical restriction and results in convergence.

Question 1. What is the most likely diagnosis?

A. Congenital myasthenic syndrome
B. Atypical Duane syndrome
C. Posterior polymorphous corneal dystrophy
D. Congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
E. Chronic progressive external ophthalmoplegia

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Question 2. Which physical examination finding would not be expected in a patient with CFEOM?

A. Afferent pupillary defect
B. Significant bilateral astigmatic defect
C. Impaired vertical and horizontal eye movements
D. Absent sensitivity to disparate binocular stimuli
E. Positive restriction on forced duction testing

View the Answer


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