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StoneRounds Disease Atlas SR980

SR980

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR980

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

Age at visit: 8 years (Visit 2)
OD OS
20/30 +2
20/25 +2

History

This 17 year old female first experienced poor night vision when she was five years old. Her parents report that she would feel along walls when the light became dim.

Pedigree

Age at visit: 8 years
Age at visit: 8 years (Visit 2)
Age at visit: 9 years
Age at visit: 10 years
Age at visit: 11 years
Age at visit: 17 years
Age at visit: 21 years
Age at visit: 30 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa PRPF31 IVS10+1 G>A   AD
Disease:
AD Retinitis Pigmentosa
Gene:
PRPF31
Allele 1:
IVS10+1 G>A
Allele 2:
 
Inheritance:
AD
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