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SR1745
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SR1745
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Case
SR1745
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Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1745
Change Format
Grid View
Download View
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Highlighted Images
Age at visit:
47 years
OD
OS
20/32
20/50 -1
Pedigree
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Age at visit:
47 years
OD
OS
20/32
20/50 -1
Show more
OD
OS
20/32
20/50 -1
OD
OS
20/32
20/50 -1
OD
OS
20/32
OCT Stack
20/50 -1
OCT Stack
Show more
OD
OS
20/32
20/50 -1
Show more
Age at visit:
48 years
OD
OS
20/32 -1
20/32
OD
OS
20/32 -1
OCT Stack
20/32
OCT Stack
Show more
OD
OS
20/32 -1
20/32
Show more
Age at visit:
52 years
OD
OS
20/32 -2
20/50 -1
OD
OS
20/32 -2
OCT Stack
20/50 -1
OCT Stack
Show more
OD
OS
20/32 -2
20/50 -1
Show more
OD
OS
20/32 -2
20/50 -1
Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
AR Retinitis Pigmentosa
EYS
Cys2139Tyr TGT>TAT
Glu2703Stop GAG>TAG
AR
Disease:
AR Retinitis Pigmentosa
Gene:
EYS
Allele 1:
Cys2139Tyr TGT>TAT
Allele 2:
Glu2703Stop GAG>TAG
Inheritance:
AR
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