Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis

Maria Fernanda Abalem, David C. Musch, David G. Birch, Mark Pennesi, John R. Heckenlively, Thiran Jayasundera

Research output: Contribution to journalArticle

1 Scopus citations


Background: To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT). Methods: Three consecutive patients with a clinical diagnosis of XLRS and pathogenic variants in the RS1, treated with carbonic anhydrase inhibitors (CAIs). Observational procedures: SD-OCT scans of the macula were acquired at 9 a.m., 1 p.m., and 4 p.m. within 24 h. Results: All patients demonstrated increased measures of central foveal thickness in the morning with gradual decrease through the day (9–43%). Major changes were observed between 9 a.m. and 1 p.m. in the central foveal thickness. Conclusion: The central foveal thickness varies during daytime hours in patients with XLRS. This finding may explain the inconsistent and heterogeneous responses to treatment with CAIs and necessitate standardization of measurement times in treatment trials for XLRS as well as in the routine ophthalmic evaluation of these patients.

Original languageEnglish (US)
Pages (from-to)437-442
Number of pages6
JournalOphthalmic Genetics
Issue number4
StatePublished - Jul 4 2018



  • Genetics
  • inherited retinal degenerations
  • macular edema
  • optical coherence tomography
  • retinoschisis
  • X-linked

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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