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StoneRounds Disease Atlas SR651

SR651

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR651

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

Age at visit: 23 years
OD OS
20/100 sc
20/100 sc

History

This 23 year old woman has experienced a gradual reduction of her visual acuity since age 11.

Pedigree

Age at visit: 23 years
Age at visit: 35 years
Age at visit: 37 years
Age at visit: 37 years (Visit 2)
Age at visit: 42 years
Age at visit: 45 years
Age at visit: 47 years
Age at visit: 55 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Val87Asp GTC>GAC   AD
Disease:
AD Retinitis Pigmentosa
Gene:
RHO
Allele 1:
Val87Asp GTC>GAC
Allele 2:
 
Inheritance:
AD
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