The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.

• Klíčová slova
• RS1, X-linked retinoschisis, novel variant, steroid treatment, uveitis,
• MeSH
• antihypertenziva aplikace a dávkování   terapeutické užití   MeSH
• dítě MeSH
• frekvence genu MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mutace MeSH
• oční proteiny genetika   MeSH
• optická koherentní tomografie MeSH
• předškolní dítě MeSH
• retinoschisis farmakoterapie   genetika   patologie   MeSH
• rodokmen MeSH
• sulfonamidy aplikace a dávkování   terapeutické užití   MeSH
• thiofeny aplikace a dávkování   terapeutické užití   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• antihypertenziva MeSH
• dorzolamide MeSH Prohlížeč
• oční proteiny MeSH
• RS1 protein, human MeSH Prohlížeč
• sulfonamidy MeSH
• thiofeny MeSH

The field of mRNA translation has witnessed an impressive expansion in the last decade. The once standard model of translation initiation has undergone, and is still undergoing, a major overhaul, partly due to more recent technical advancements detailing, for example, initiation at non-AUG codons. However, some of the pioneering works in this area have come from immunology and more precisely from the field of antigen presentation to the major histocompatibility class I (MHC-I) pathway. Despite early innovative studies from the lab of Nilabh Shastri demonstrating alternative mRNA translation initiation as a source for MHC-I peptide substrates, the mRNA translation field did not include these into their models. It was not until the introduction of the ribo-sequence technique that the extent of non-canonical translation initiation became widely acknowledged. The detection of peptides on MHC-I molecules by CD8 + T cells is extremely sensitive, making this a superior model system for studying alternative mRNA translation initiation from specific mRNAs. In view of this, we give a brief history on alternative initiation from an immunology perspective and its fundamental role in allowing the immune system to distinguish self from non-self and at the same time pay tribute to the works of Nilabh Shastri.

• Klíčová slova
• Antigen presentation, MHC class I pathway, mRNA translation initiation,
• MeSH
• CD8-pozitivní T-lymfocyty imunologie   MeSH
• lidé MeSH
• messenger RNA genetika   imunologie   MeSH
• MHC antigeny I. třídy genetika   imunologie   MeSH
• peptidy genetika   imunologie   MeSH
• prezentace antigenu genetika   imunologie   MeSH
• proteosyntéza genetika   imunologie   MeSH
• receptory pro aktivovanou kinasu C genetika   imunologie   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Názvy látek
• messenger RNA MeSH
• MHC antigeny I. třídy MeSH
• peptide I MeSH Prohlížeč
• peptidy MeSH
• receptory pro aktivovanou kinasu C MeSH