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

Autor:	Bayram N; Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey., Kaçar Bayram A; Department of Pediatric Neurology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey., Daimagüler HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Bamborschke D; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Uyanik G; Center for Medical Genetics, Hanusch Hospital, Vienna, Austria.; Medical Faculty, Sigmund Freud University, Vienna, Austria., Erdogan M; Department of Medical Genetics, University of Health Sciences, Kayseri Training and Research Hospital, Kayseri, Turkey., Özsaygılı C; Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey., Pangal E; Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey., Yuvaci İ; Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey., Doğanay S; Erciyes University, School of Medicine, Department of Radiology, Division of Pediatric Radiology, Kayseri, Turkey., Gümüş H; Department of Pediatrics, Erciyes University, School of Medicine, Division of Pediatric Neurology, Kayseri, Turkey., Per H; Department of Pediatrics, Erciyes University, School of Medicine, Division of Pediatric Neurology, Kayseri, Turkey., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Department of Basic and Clinical Neuroscience, IoPPN, London, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK., Çırak S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Jazyk:	angličtina
Zdroj:	European journal of ophthalmology [Eur J Ophthalmol] 2022 May; Vol. 32 (3), pp. NP92-NP97. Date of Electronic Publication: 2021 Jun 02.
DOI:	10.1177/11206721211021291
Abstrakt:	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.
Databáze:	MEDLINE
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