Abstract | PURPOSE: METHODS: RESULTS: There are 19 reports of corneal involvement in clinical phenotypes of mitochondrial disease. Nine of these 19 cases had findings consistent with KSS. Our patients with KSS had microcystic changes throughout the cornea and excrescences on the endothelial surface seen with ultrasound biomicroscopy, similar to the clinical findings in FECD. CoQ10 improved corneal disease in both children. CoQ10 deficiency has been reported in a variety of mitochondrial diseases, and efficacy of supplementation has been demonstrated. It may be beneficial in these patients because of its antioxidant properties and role in oxidative phosphorylation. CONCLUSIONS: The common deletion found in patients with KSS has recently been implicated in FECD, which has recently been shown to be a disease related to dysfunctional oxidative metabolism. Future research should explore the use of antioxidants, such as CoQ10 in patients with FECD.
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Authors | Jocelyn Kim, Anagha Medsinge, Bharesh Chauhan, Cara Wiest, Hannah Scanga, Rachael Monaghan, William H Moore, Ken K Nischal |
Journal | Cornea
(Cornea)
Vol. 35
Issue 9
Pg. 1250-4
(Sep 2016)
ISSN: 1536-4798 [Electronic] United States |
PMID | 27442316
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- Electron Transport Chain Complex Proteins
- Ophthalmic Solutions
- Ubiquinone
- coenzyme Q10
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Topics |
- Child
- Child, Preschool
- Corneal Edema
(diagnosis, drug therapy)
- Electron Transport Chain Complex Proteins
(therapeutic use)
- Endothelium, Corneal
(drug effects, pathology)
- Fuchs' Endothelial Dystrophy
(drug therapy)
- Humans
- Kearns-Sayre Syndrome
(diagnosis, drug therapy)
- Male
- Ophthalmic Solutions
- Ubiquinone
(analogs & derivatives, therapeutic use)
- Visual Acuity
(drug effects)
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