April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Mitochondrial Myopathy in Isolated Congenital Ptosis
Author Affiliations & Notes
  • Megan Xue
    Baylor College of Medicine, Houston, TX
  • Honey Herce
    Ophthalmology, Texas Children's Hospital, Houston, TX
    Ophthalmology, Baylor College of Medicine, Houston, TX
  • Evelyn Paysse
    Ophthalmology, Texas Children's Hospital, Houston, TX
    Ophthalmology, Baylor College of Medicine, Houston, TX
  • Footnotes
    Commercial Relationships Megan Xue, None; Honey Herce, None; Evelyn Paysse, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 3106. doi:
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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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      © ARVO (1962-2015); The Authors (2016-present)

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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  
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