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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,
Language English Country United States
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Extracellular Matrix Proteins genetics MeSH
- Humans MeSH
- Mutation, Missense MeSH
- Myosins genetics MeSH
- Retinal Diseases diagnosis diagnostic imaging MeSH
- Tomography, Optical Coherence methods MeSH
- Child, Preschool MeSH
- Usher Syndromes diagnosis genetics MeSH
- Check Tag
- Humans MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't 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.
References provided by 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 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 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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