StoneRounds Disease Atlas SR1063
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StoneRounds Disease Atlas SR1063

Case

SR1063

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AD Retinitis Pigmentosa (IA1aii)

Male

Male

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SR1063

Grid View Download View

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Male

Male

Highlighted Images

Age at visit: 26 years
OD OS
20/25 -2
20/25 -1

Pedigree

Age at visit: 26 years
ODOS
20/25 -2
20/25 -1
ODOS
20/25 -2
20/25 -1
ODOS
20/25 -2
20/25 -1
ODOS
20/25 -2 OCT Stack
20/25 -1 OCT Stack
ODOS
20/25 -2
20/25 -1
Age at visit: 28 years
ODOS
20/25 -2
20/25 -2
ODOS
20/25 -2 OCT Stack
20/25 -2 OCT Stack
ODOS
20/25 -2
20/25 -2

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa PRPF31 IVS5-1G>A   AD
Disease:
AD Retinitis Pigmentosa
Gene:
PRPF31
Allele 1:
IVS5-1G>A
Allele 2:
 
Inheritance:
AD
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