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StoneRounds Disease Atlas SR2578

SR2578

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AR Stargardt Disease (IIA)

Female

Female

SR2578

Grid View Download View

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 59 years (Visit 3)
OD OS
20/250
20/20 -1

History

This 59 year old woman first noticed vision loss in her right eye a few months earlier. She has a cousin with Rhodopsin-associated RP.

Pedigree

Age at visit: 58 years
Age at visit: 58 years (Visit 2)
Age at visit: 58 years (Visit 3)
Age at visit: 59 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 59 years (Visit 2)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 59 years (Visit 3)
Age at visit: 59 years (Visit 4)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 59 years (Visit 5)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 59 years (Visit 6)
Age at visit: 60 years
Age at visit: 60 years (Visit 2)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 60 years (Visit 3)
Age at visit: 60 years (Visit 4)
Age at visit: 60 years (Visit 5)
Age at visit: 60 years (Visit 6)
Age at visit: 61 years
Age at visit: 61 years (Visit 2)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 61 years (Visit 3)
Age at visit: 61 years (Visit 4)
Age at visit: 61 years (Visit 5)
Age at visit: 61 years (Visit 6)
Age at visit: 61 years (Visit 7)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Arg219Thr AGA>ACA Gly863Ala (G)GA>(G)CA AR
Disease:
AR Stargardt Disease
Gene:
ABCA4
Allele 1:
Arg219Thr AGA>ACA
Allele 2:
Gly863Ala (G)GA>(G)CA
Inheritance:
AR
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