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Chronic progressive external ophthalmoplegia (CPEO) is a genetic disorder of mitochondrial DNA characterised by progressive ocular dysmotility and eyelid ptosis.1 Other ophthalmological manifestations of mitochondrial eye disease include optic atrophy and retinal pigmentary changes. There have also been several reports of corneal opacification associated with Kearns–Sayre syndrome and ophthalmoplegia-plus.2–5 Corneal decompensation secondary to exposure from lagophthalmos and absent Bell’s phenomenon has been reported in CPEO, but few have progressive peripheral corneal oedema.6,7 We describe a patient presenting initially with bilateral segmental corneal oedema, in whom the subsequent diagnosis of CPEO followed the corneal changes.
A 38-year-old black woman with a diagnosis of primary ovarian failure presented with 5 years of bilateral progressive corneal oedema. Initial visual acuity was 20/60 …