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SR1665
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Disease Atlas
SR1665
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Case
SR1665
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Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1665
Change Format
Grid View
Download View
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Highlighted Images
Age at visit:
39 years
OD
OS
20/20 +3
20/20 +1
Pedigree
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Age at visit:
39 years
OD
OS
20/20 +3
20/20 +1
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OD
OS
20/20 +3
20/20 +1
OD
OS
20/20 +3
20/20 +1
Age at visit:
51 years
OD
OS
20/125 -2
20/125 -1
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OD
OS
20/125 -2
20/125 -1
OD
OS
20/125 -2
20/125 -1
OD
OS
20/125 -2
OCT Stack
20/125 -1
OCT Stack
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OD
OS
20/125 -2
20/125 -1
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Age at visit:
53 years
OD
OS
10/200
10/200
OD
OS
10/200
OCT Stack
10/200
OCT Stack
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OD
OS
10/200
10/200
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Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
AR Retinitis Pigmentosa
USH2A
Cys759Phe TGC>TTC
Cys759Phe TGC>TTC / Pro2870Leu CCA>CTA
AR
Disease:
AR Retinitis Pigmentosa
Gene:
USH2A
Allele 1:
Cys759Phe TGC>TTC
Allele 2:
Cys759Phe TGC>TTC / Pro2870Leu CCA>CTA
Inheritance:
AR
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False Genotype Rate:
Gene Count:
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