July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Endothelial corneal dystrophy is penetrant in mitochondrial disorders
Author Affiliations & Notes
  • Mathieu Bakhoum
    Columbia University Medical Center, Glen Oaks, New York, United States
    Nassau University Medical Center, East Meadow, New York, United States
  • Kevin Bubel
    Nassau University Medical Center, East Meadow, New York, United States
  • Michael Reinsbach
    Nassau University Medical Center, East Meadow, New York, United States
  • John Alexander
    Nassau University Medical Center, East Meadow, New York, United States
  • Marcelle Morcos
    Nassau University Medical Center, East Meadow, New York, United States
  • K Bailey Freund
    Vitreous Retina Macula Consultants of New York, New York, New York, United States
  • David Sarraf
    UCLA, Los Angeles, California, United States
  • Henry Perry
    Nassau University Medical Center, East Meadow, New York, United States
  • Stephen H Tsang
    Columbia University Medical Center, Glen Oaks, New York, United States
  • Footnotes
    Commercial Relationships   Mathieu Bakhoum, None; Kevin Bubel, None; Michael Reinsbach, None; John Alexander, None; Marcelle Morcos, None; K Bailey Freund, None; David Sarraf, None; Henry Perry, None; Stephen Tsang, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 2915. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Mathieu Bakhoum, Kevin Bubel, Michael Reinsbach, John Alexander, Marcelle Morcos, K Bailey Freund, David Sarraf, Henry Perry, Stephen H Tsang; Endothelial corneal dystrophy is penetrant in mitochondrial disorders. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2915.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : Mitochondrial disorders can have a spectrum of ocular manifestations, mainly pigmentary retinopathy, macular dystrophy, ptosis, and ophthalmoplegia. We had previously shown that a point mutation in the mitochondrial genome, A3243G, results in endothelial corneal dystrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicroscopy analysis in patients with mitochondrial diseases to assess for the presence of corneal endothelial dystrophy.

Methods : We performed an observational clinical study to identify endothelial corneal abnormalities in patients diagnosed with mitochondrial disorders. Exclusion criteria included a prior diagnosis, or a positive family history, of endothelial corneal dystrophy. Corneal examination using slit-lamp examination and specular microscopy were performed. The results of genetic testing were also recorded. Patients who were diagnosed based on clinical examination were genetically tested for the mitochondrial mutations using pyrosequencing, a sensitive method that detects low heteroplasmy.

Results : Seven patients (three male and four female participants), with different ethnic backgrounds met the inclusion criteria. Mitochondrial disorders in these patients were maternally inherited diabetes and deafness (MIDD), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), neuropathy, ataxia, and retinitis pigmentosa (NARP) and Kearns Sayre syndrome. Their ages ranged from 27 to 63 years. Corneal endothelial changes observed using slit-lamp examination were primarily mild to rare guttata. Specular biomicroscopy displayed polymegathism. The average endothelial cell count was 2234 +/- 471 cells/mm2, the average endothelial cell size was 468 +/- 107 μm2 and the average central corneal thickness was 550 +/- 29 um. The average coefficient of variation (COV), an index of heterogeneity in cell size, was 41.5 ± 3.8%. The average COV was significantly higher than predicted for the patients' age.

Conclusions : This study is the first comprehensive report of anterior segment complications, specifically corneal endothelial dystrophy, associated with the mitochondrial disorders. This corneal dystrophy is mainly associated with polymegathism along with mild guttata and polymorphism, while maintaining appropriate corneal thickness. The findings of corneal endothelial cell polymegathism may be potentially used as a biomarker of mitochondrial disease.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×