Loading...

SR2788

AR Stargardt Disease (IIA)

Male

Male

SR2788

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 44 years

Fundus Photography - Left - Light Perception sc

Exemplar

Visit at age: 63 years

Fundus Photography - Right - Light Perception sc

Exemplar

Fundus Photography - Left - Light Perception sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 IVS14+1 G>C Phe1440 del1ggcT AR
Gene:
Allele 1:
IVS14+1 G>C
Allele 2:
Phe1440 del1ggcT
Inheritance:
AR
Cite this case