Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Oct;41(5):497-500.
doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13.

Retinoschisis associated with Kearns-Sayre syndrome

Julia Chertkof  1 , Robert B Hufnagel  1 , Delphine Blain  1 , Andrea L Gropman  2 , Brian P Brooks  1
Affiliations
Case Reports

Retinoschisis associated with Kearns-Sayre syndrome

Julia Chertkof et al. Ophthalmic Genet. 2020 Oct.

Abstract

Background: Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS.

Materials and methods: Physical and complete ophthalmic examination, molecular diagnosis.

Results: Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart block. At age 21 he was incidentally found to have retinoschisis on optical coherence tomography that remained stable over three years follow-up. Sequencing of the RS1 gene revealed no pathogenic variants, effectively ruling out co-existing X-linked retinoschisis.

Conclusions: These findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition.

Keywords: Kearns-Sayre syndrome; mitochondria; retinoschisis.

PubMed Disclaimer

Conflict of interest statement

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Figures

Figure 1.
Figure 1.
Spectral-domain OCT image of the retina through the fovea of the right (a) and left (b) eyes demonstrating retinoschisis. To highlight details of the schisis cavity, the contrast was increased from the original images. Fundoscopy demonstrated mild pigment mottling of the macula (c), better appreciated as hypoautofluorecent stippling on blue light autofluorescence (d).
See this image and copyright information in PMC

Comment in

References

    1. Kearns TP. External ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy: a newly recognized syndrome. Trans Am Ophthalmol Soc. 1965;63:559–625. - PMC - PubMed
    1. Wallace DC, Lott MT, Brown MD, Kerstann K. Mitochondria and neuro-ophthalmologic diseases. In: The online metabolic and molecular bases of inherited diseases [Internet]. New York, NY: McGraw-Hill Education; 2019. ommbid.mhmedical.com/content.aspx?aid=1170091759
    1. Poulton J, Morten KJ, Marchington D, Weber K, Brown GK, Rotig A, Bindoff L. Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve Suppl. 1995;3:S154–8. - PubMed
    1. Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, Hays A, Vicale CT, Behrens M, Chutorian A, et al. Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayre syndrome? Ann Neurol. 1977;1(1):37–54. doi:10.1002/ana.410010104. - DOI - PubMed
    1. Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogler H, Schmitz J, Ricour C, Saudubray J-M, Munnich A, Rötig A, et al. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr. 1994;124(1):63–70. doi:10.1016/S0022-3476(94)70255-1. - DOI - PubMed

Publication types

LinkOut - more resources