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Disease Atlas
SR2306
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StoneRounds
Disease Atlas
SR2306
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Case
SR2306
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AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
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SR2306
Change Format
Grid View
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Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
Highlighted Images
Age at visit:
65 years
OD
OS
20/160 -2
10/140
Pedigree
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Age at visit:
65 years
OD
OS
20/160 -2
10/140
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OD
OS
20/160 -2
10/140
OD
OS
20/160 -2
OCT Stack
10/140
OCT Stack
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OD
OS
20/160 -2
10/140
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OD
OS
20/160 -2
10/140
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Age at visit:
67 years
OD
OS
10/80
OCT Stack
10/200
OCT Stack
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OD
OS
10/80
10/200
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Age at visit:
69 years
OD
OS
10/100 +1
10/125
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OD
OS
10/100 +1
10/125
OD
OS
10/100 +1
OCT Stack
10/125
OCT Stack
Show more
OD
OS
10/100 +1
10/125
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Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
AD Cone and Cone Rod Dystrophy
GUCY2D
Arg838Cys CGC>TGC
AD
Disease:
AD Cone and Cone Rod Dystrophy
Gene:
GUCY2D
Allele 1:
Arg838Cys CGC>TGC
Allele 2:
Inheritance:
AD
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