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StoneRounds Disease Atlas SR2116

SR2116

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AR Stargardt Disease (IIA)

Female

Female

SR2116

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AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 63 years
OD OS
20/25*
20/25*

History

This 63 year old woman was 20/20 until age 52 at which point she began developing a slight reduction in VA OU.

Pedigree

Age at visit: 60 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 63 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 77 years
Age at visit: 85+ (Visit 1)
Age at visit: 85+ (Visit 2)
Age at visit: 85+ (Visit 3)
Age at visit: 85+ (Visit 4)
Age at visit: 85+ (Visit 5)
Age at visit: 85+ (Visit 6)
Age at visit: 85+ (Visit 7)
Age at visit: 85+ (Visit 8)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Glu1122Lys GAG>AAG Unknown AR
Disease:
AR Stargardt Disease
Gene:
ABCA4
Allele 1:
Glu1122Lys GAG>AAG
Allele 2:
Unknown
Inheritance:
AR
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