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SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1
R. Kremlikova Pourova, J. Paderova, J. Copikova, B. Kousal, L. Dudakova, P. Liskova,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
- MeSH
- extracelulární matrix - proteiny genetika MeSH
- lidé MeSH
- missense mutace MeSH
- myosiny genetika MeSH
- nemoci retiny diagnóza diagnostické zobrazování MeSH
- optická koherentní tomografie metody MeSH
- předškolní dítě MeSH
- Usherovy syndromy diagnóza genetika MeSH
- Check Tag
- lidé MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
A girl with profound congenital deafness and balance problems was found at 3.5 years of age to be a carrier of two novel compound heterozygous mutations in MYO7A that were predicted to be disease-causing. She also carried one known pathogenic mutation and one rare variant in USH2A. Fundus examination performed at 4.75 years revealed one small peripheral pigment deposit in the right eye, indicating probable retinal degeneration. Spectral domain optical coherence tomography (SD-OCT) showed a loss of photoreceptors throughout the macular area, except for the foveolar region, clearly confirming a diagnosis of Usher syndrome type 1. This case demonstrates that SD-OCT may be easily used in young children to confirm retinal disease, quantify the extent of retinal damage, and monitor disease progression.
Citace poskytuje Crossref.org
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- $a Kremlíková Pourová, Radka, $u Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. $d 1980- $7 xx0160300
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- $a SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1 / $c R. Kremlikova Pourova, J. Paderova, J. Copikova, B. Kousal, L. Dudakova, P. Liskova,
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- $a A girl with profound congenital deafness and balance problems was found at 3.5 years of age to be a carrier of two novel compound heterozygous mutations in MYO7A that were predicted to be disease-causing. She also carried one known pathogenic mutation and one rare variant in USH2A. Fundus examination performed at 4.75 years revealed one small peripheral pigment deposit in the right eye, indicating probable retinal degeneration. Spectral domain optical coherence tomography (SD-OCT) showed a loss of photoreceptors throughout the macular area, except for the foveolar region, clearly confirming a diagnosis of Usher syndrome type 1. This case demonstrates that SD-OCT may be easily used in young children to confirm retinal disease, quantify the extent of retinal damage, and monitor disease progression.
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- $a Paderova, Jana $u Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
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- $a Copikova, Jana $u Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
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- $a Kousal, Bohdan $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
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- $a Dudakova, Lubica $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
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- $a Liskova, Petra $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. Electronic address: petra.liskova@lf1.cuni.cz.
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