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StoneRounds Disease Atlas SR583

SR583

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AR Stargardt Disease (IIA)

Female

Female

SR583

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AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 38 years
OD OS
20/250 sc
20/250 sc

Pedigree

Age at visit: 15 years
Age at visit: 26 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 29 years
Age at visit: 30 years
Age at visit: 38 years
Age at visit: 39 years
Age at visit: 40 years
Age at visit: 41 years
Age at visit: 42 years
Age at visit: 45 years
Age at visit: 46 years
Age at visit: 48 years
Age at visit: 49 years
Age at visit: 50 years
Age at visit: 51 years
Age at visit: 52 years
Age at visit: 52 years (Visit 2)
Age at visit: 53 years
Age at visit: 55 years
Age at visit: 57 years
Age at visit: 59 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Ala1038Val GCC>GTC / Ala854Thr GCT>ACT Arg1108Cys CGC>TGC AR
Disease:
AR Stargardt Disease
Gene:
ABCA4
Allele 1:
Ala1038Val GCC>GTC / Ala854Thr GCT>ACT
Allele 2:
Arg1108Cys CGC>TGC
Inheritance:
AR
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