Abstract
Purpose:
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.
Methods:
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.
Results:
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.
Conclusions:
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.
Keywords: 526 eyelid •
600 mitochondria •
539 genetics