Retinoschisis associated with Kearns-Sayre syndrome
Julia Chertkof1, Robert B Hufnagel1, Delphine Blain1
1Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, Maryland, USA.
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.
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