Authors present ocular findings in the patient send to Pediatric Ophthalmology department Childrens Univerity Hospital in Bratislava at the age of 3 years with congenital glaucoma on her right eye and high myopia bilateral. In family history short stature, myopia, facial dysmorfism and cataract occured. Mother of our patient suffered of myopia, her brother underwent surgery because of cataract, grand mother of the child, her sisters and grand-grand mother had myopia and surgery for cataract presumably in youth. In child, a poor cortical auditory evoked potential, septal defect and a bifid uvula was detected by neonatal screening. Based on general status of the child and family history, we suspected Marshall syndrome. With genetic test Stickler I syndrome with COL2A1 mutation was established (variant c.2710C ˃T (p.Arg904Cys,rs121912882)) Because of high intraocular pressure, non compensated by medicaments, the trabeculectomy on both eyes was perfomed. Patient now has good intraocular pressure with adjuvant medicamentose therapy. The retinal cryopexy in child is planned, because of lattice peripheral retinal degeneration and high myopia. Molecular genetic tests helped with diagnosis of Stickler 1 syndrome in a family with Marshall / Stickler 2 fenotype.

• Klíčová slova
• Marshallův syndrom, Sticklerův syndrom, dysmorfie,
• MeSH
• anamnéza MeSH
• dědičné zánětlivé autoimunitní nemoci * chirurgie   diagnóza   genetika   patologie   MeSH
• diagnostické techniky oftalmologické MeSH
• fundus oculi MeSH
• genetické testování MeSH
• glaukom diagnóza   etiologie   genetika   MeSH
• katarakta genetika   MeSH
• kojenec MeSH
• lidé MeSH
• mutace MeSH
• myopie diagnóza   etiologie   genetika   MeSH
• oční nemoci * diagnóza   genetika   MeSH
• rohovka patologie   MeSH
• tělesné dysmorfické poruchy genetika   MeSH
• trabekulektomie MeSH
• tvář patofyziologie   patologie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

Autori uvádzajú očný nález u pacientky, odoslanej na Kliniku detskej oftalmológie NÚDCH - LFUK v Bratislave vo veku 3 mesiacov s pravostranným kongenitálnym glaukómom a vysokou myopiou. V rodinnej anamnéze pacientky sa opakovane vyskytovali nízky vzrast, myopia, tvárová dysmorfia a katarakta. Matka mala vysokú myopiu, matkin brat bol operovaný pre kataraktu, stará matka dieťaťa a jej matka a sestry mali vysokú myopiu, glaukóm, a operáciu katarakty pravdepodobne v mladom veku. Matka a stará matka dieťaťa absolvovali genetické vyšetrenie so záverom Marshallov syndróm. U dieťaťa boli v rámci novorodeneckého skríningu diagnostikované zle výbavné sluchové potenciály a defekt predsieňového septa, uvula bifida. Vzhľadom na celkový nález u pacientky a genetickú záťaž v rodine sme suponovali Marshallov syndróm. Genetické vyšetrenie stanovilo Sticklerov syndróm typu 1 s prítomnou mutáciou v COL2A géne (variant c.2710C ˃T (p.Arg904Cys,rs121912882)). Pre medikamentózne nekompenzovateľný vnútroočný tlak bola u pacientky vykonaná trabekulektómia obojstranne. V súčasnosti má pacientka vnútroočný tlak kompenzovaný s adjuvantnou medikamentóznou liečbou. Vzhľadom na vysokú myopiu a výrazné degeneratívne zmeny na periférii sietnice v zmysle palisádovitej degenerácie, je plánovaná preventívna kryopexia periférie sietnice. Molekulárna genetická analýza pomohla diagnostikovať ochorenie ako Sticklerov syndróm typu 1, ktorý javil fenotypické znaky Marshallovho syndrómu, resp. Sticklerovho syndrómu typu 2.

The authors present the ocular finding in a patient sent to the Department of Paediatric Ophthalmology at the Children's University Hospital – Faculty of Medicine, Comenius University in Bratislava at the age of 3 months, with congenital glaucoma in her right eye and bilateral high myopia. The family anamnesis of the patient shows repeated occurrence of stunted growth, myopia, facial dysmorphia and cataract. The child's mother had high myopia, the mother's brother underwent cataract surgery, the child's grandmother and her sisters and the child's great grandmother had high myopia and glaucoma, and probably underwent cataract surgery at a young age. The child's mother and grandmother underwent a genetic examination, with a conclusion of Marshall syndrome. Within the framework of neonatal screening, poor cortical auditory evoked potential, a defect of the interventricular septum and bifid uvula were diagnosed in the child. With regard to the overall finding in the patient and the genetic family history, we suspected Marshall syndrome. A genetic examination determined Stickler syndrome type 1 with the presence of mutation in the COL2A gene (variant c.2710C >T (p.Arg904Cys,rs121912882)). Due to high intraocular pressure with the impossibility of compensation by medication, bilateral trabuculectomy was performed on the patient. At present the patient has intraocular pressure compensated with adjuvant medicamentous therapy. With regard to high myopia and pronounced degenerative changes on the periphery of the retina in the sense of lattice degeneration, preventive cryopexy of the retinal periphery is planned. A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or Stickler syndrome type 2.

• Klíčová slova
• Marschallův syndrom, Sticklerův syndrom,
• MeSH
• diagnostické techniky oftalmologické MeSH
• genetické nemoci vrozené * diagnóza   genetika   MeSH
• genetické testování MeSH
• glaukom genetika   MeSH
• katarakta genetika   MeSH
• kojenec MeSH
• lidé MeSH
• myopie diagnóza   genetika   MeSH
• oční nemoci * diagnóza   genetika   MeSH
• rodina MeSH
• tělesné dysmorfické poruchy genetika   MeSH
• tvář patofyziologie   MeSH
• výsledek terapie MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

• MeSH
• hemostáza * MeSH
• koagulopatie MeSH
• trombocytopatie MeSH
• trombóza MeSH
• Publikační typ
• monografie MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• hematologie a transfuzní lékařství