Retinoschisis associated with Kearns-Sayre syndrome

Ophthalmic Genet. 2020 Oct;41(5):497-500. doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Humans
  • Kearns-Sayre Syndrome / complications
  • Kearns-Sayre Syndrome / diagnostic imaging
  • Kearns-Sayre Syndrome / pathology*
  • Male
  • Prognosis
  • Retinoschisis / complications
  • Retinoschisis / diagnostic imaging
  • Retinoschisis / pathology*
  • Tomography, Optical Coherence / methods
  • Young Adult