Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

Nurettin Bayram*, Ayşe Kaçar Bayram, Hülya Sevcan Daimagüler, Hormos Salimi Dafsari, Daniel Bamborschke, Gökhan Uyanik, Murat Erdogan, Cemal Özsaygılı, Emine Pangal, İsa Yuvaci, Selim Doğanay, Hakan Gümüş, Hüseyin Per, Heinz Jungbluth, Sebahattin Çırak

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patients’ ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene (SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.

Original languageEnglish
Pages (from-to)11206721211021291
JournalEuropean Journal of Ophthalmology
Early online date2 Jun 2021
Publication statusE-pub ahead of print - 2 Jun 2021


  • SIL1
  • cataract
  • children
  • Marinesco–Sjögren syndrome
  • myopathy


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