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Megan Xue, Honey Herce, Evelyn Paysse; Mitochondrial Myopathy in Isolated Congenital Ptosis. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3106.
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To provide institution-specific data regarding the percentage of isolated congenital ptosis patients who have undergone autogenous fascia lata frontalis suspension found to have mitochondrial myopathy on muscle biopsy.
Retrospective, single surgeon chart review of patients with isolated congenital ptosis who underwent autogenous fascia lata frontalis suspension from January 1, 2010 to July 29, 2013.
Nine children aged 2-16 years old (mean 8 +/- 4 years old) were included. All nine children were diagnosed shortly after birth with congenital ptosis, but many had not presented to our institution until a mean age of 5 years +/- 3.9 years. Average time for follow-up was 24 mos +/- 31 mos. Six (67%) had bilateral ptosis, three (33%) had unilateral involvement. Four (44%) of the 9 patients underwent concurrent muscle biopsy of the vastus lateralis at the time of fascia lata harvest. 100% had histopathologic findings consistent with a mitochondrial myopathy.
This is a small retrospective review, but it demonstrates that isolated congenital ptosis may be due to a previously unrecognized mild mitochondrial myopathy. Though no curative medical treatments are currently available for mitochondrial myopathies, it is important to recognize that isolated congenital ptosis could be a mild mitochondrial myopathy as therapies may be developed in the future that could impact its management. Further investigation with a larger number of patients is warranted to confirm these findings.
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