SR2598

AR Stargardt Disease (IIA)

Male

Male

SR2598

AR Stargardt Disease (IIA)

Male

Male

Highlighted Images

Age at visit: 62 years
OD OS

Pedigree

Age at visit: 60 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 60 years (Visit 2)
Age at visit: 62 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Gln636Stop CAG>TAG His1406 del1caC AR
Gene:
Allele 1:
Gln636Stop CAG>TAG
Allele 2:
His1406 del1caC
Inheritance:
AR
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