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StoneRounds Disease Atlas SR2689

SR2689

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XL Retinitis Pigmentosa (IA1ai)

Female

Female

SR2689

Grid View Download View

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Highlighted Images

Age at visit: 57 years
OD OS
20/32
20/160

History

This 57 year old woman first noticed poor vision in dim light and difficulty seeing the board in school at age 12.

Pedigree

Age at visit: 57 years
Age at visit: 58 years
Age at visit: 58 years (Visit 2)
Age at visit: 58 years (Visit 3)
Age at visit: 58 years (Visit 4)
Age at visit: 59 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gly743 ins1ggA   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Gly743 ins1ggA
Allele 2:
 
Inheritance:
XL
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