Bayram, Nurettin ORCID: 0000-0003-3244-7328, Kacar Bayram, Ayse, Daimagueler, Hulya-Sevcan, Salimi Dafsari, Hormos ORCID: 0000-0003-3483-5009, Bamborschke, Daniel, Uyanik, Gokhan, Erdogan, Murat, Ozsaygili, Cemal, Pangal, Emine, Yuvaci, Isa, Doganay, Selim, Gumus, Hakan, Per, Huseyin, Jungbluth, Heinz and Cirak, Sebahattin . Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjogren syndrome: Case report and literature review. Eur. J. Ophthalmol.. LONDON: SAGE PUBLICATIONS LTD. ISSN 1724-6016

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Bayram, NurettinUNSPECIFIEDorcid.org/0000-0003-3244-7328UNSPECIFIED
Kacar Bayram, AyseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Daimagueler, Hulya-SevcanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Salimi Dafsari, HormosUNSPECIFIEDorcid.org/0000-0003-3483-5009UNSPECIFIED
Bamborschke, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uyanik, GokhanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Erdogan, MuratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ozsaygili, CemalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pangal, EmineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yuvaci, IsaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doganay, SelimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gumus, HakanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Per, HuseyinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jungbluth, HeinzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cirak, SebahattinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-597326
DOI: 10.1177/11206721211021291
Journal or Publication Title: Eur. J. Ophthalmol.
Publisher: SAGE PUBLICATIONS LTD
Place of Publication: LONDON
ISSN: 1724-6016
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SIL1 MUTATIONS; CATARACTMultiple languages
OphthalmologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/59732

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