Selective aplasia of global fibres of all extraocular muscles in congenital fibrosis of extraocular muscles (CFEOM): a rare presentation

Description

A 15-year-old boy presented in our strabismus clinic with complaints of bilateral ptosis and limitation of ocular movements since birth. He had a positive family history of consanguinity and similar ocular movement abnormalities in his three siblings. There was no history of systemic illness. Physical examination showed normal growth parameters without craniofacial dysmorphism except blepharoptosis and lagophthalmos in both eyes, more marked in the right eye. Right eye best-corrected visual acuity (BCVA) was 6/12 and left eye BCVA was 6/9. Slit-lamp biomicroscopy of right eye showed exposure keratopathy, rest was unremarkable. Fundus examination was within normal limits, with no pigmentary retinopathy or optic atrophy changes. There was almost total external ophthalmoplegia, with normal reacting pupils to both direct and consensual light reflex in each eye. The patient preferred fixation with the left eye as his right eye had severe ptosis covering the pupillary area. The patient had chin up and 15° right...

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