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Case Reports
. 2021 Mar 17:22:101073.
doi: 10.1016/j.ajoc.2021.101073. eCollection 2021 Jun.

Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease

Elizabeth M McElnea  1 , Zelda S Pick  1 , Aoife C Smyth  1 , Louis J Stevenson  1 , Penny A McKelvie  2 , Michael S Loughnan  3 , Alan A McNab  1   4
Affiliations
Case Reports

Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease

Elizabeth M McElnea et al. Am J Ophthalmol Case Rep. .

Abstract

Purpose: To describe two patients with bilateral ptosis, ophthalmoplegia, cataracts and corneal endothelial disease requiring corneal transplantation.

Observations: Histopathological analysis of muscle biopsy samples from both patients identified features consistent with a mitochondrial cytopathy. A single multigenic mitochondrial deoxyribonucleic acid (DNA) deletion was detected in the first patient. Pathogenic mutations in the POLG gene which codes for mitochondrial DNA polymerase, tasked with replicating the mitochondrial genome were identified in the second patient.

Conclusion: The collection of clinical features present in both cases described can be explained by a diagnosis of mitochondrial disease.

Importance: Corneal endothelial disease, in addition to ptosis, ophthalmoplegia, cataract, pigmentary retinopathy and optic atrophy should be recognised as a feature of mitochondrial disease.

Keywords: ATP, Adenosine triphosphate; CHED, Congenital hereditary endothelial dystrophy; COX, Cytochrome oxidase; CPEO, Chronic progressive external ophthalmoplegia; Corneal endothelial disease; DNA, Deoxyribonucleic acid; DSAEK, Descemet's stripping automated endothelial keratoplasty; FECD, Fuchs endothelial corneal dystrophy; LF, Levator palpebrae superioris function; MELAS syndrome, Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke; MRD1, Margin reflex 1 distance; MT-ATP6, Mitochondrially encoded adenosine triphosphate synthase membrane subunit 6; MT-TP, Mitochondrially encoded transfer ribonucleic acid proline; Mitochondrial disease; Ophthalmoplegia; Ptosis; RNA, Ribonucleic acid; SDH, Succinic dehydrogenase; TRNA, Transfer ribonucleic acid.

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Conflict of interest statement

The authors have no conflicts of interest to report.

Figures

Fig. 1
Fig. 1
Case 1. Haematoxylin and eosin. 200X. A double layer of Descemet's membrane with a marked reduction in endothelial cell density.
Fig. 2
Fig. 2
Case 1. Cytochrome oxidase (COX), succinic dehydrogenase (SDH) stain. 200X. COX-negative muscle fibres staining blue interspersed among normal-appearing fibres to create a mosaic pattern. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.)
See this image and copyright information in PMC

References

    1. Johns D.R. Seminars in medicine of the beth Israel hospital, boston. Mitochondrial DNA and disease. N Engl J Med. 1995;333(10):638–644. - PubMed
    1. Chang T.S., Johns D.R., Stark W.J. Corneal decompensation in mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. A clinicopathologic case report. Cornea. 1994;13(3):269–273. - PubMed
    1. Kim J., Medsinge A., Chauhan B., Wiest C. Coenzyme Q10 in the treatment of corneal edema in kearns-sayre: is there an application in Fuchs endothelial corneal dystrophy? Cornea. 2016;35(9):1250–1254. - PubMed
    1. Kearns T.P., Sayre G.P. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 1958;60(2):280–289. - PubMed
    1. Bourne W.M. Biology of the corneal endothelium in health and disease. Eye. 2003;17(8):912–918. - PubMed

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