Loading...

SR2636

AR Stargardt Disease (IIA)

Female

Female

SR2636

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 61 years

Fundus Photography - Right - 20/125 -2

Exemplar

Fundus Photography - Left - 20/125 -2

Exemplar

Goldmann Visual Field - Right - 20/125 -2

Exemplar

Goldmann Visual Field - Left - 20/125 -2

Exemplar

Optical Coherence Tomography - Right - 20/125 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 -2

Exemplar

Infrared Fundus Photograph - Left - 20/125 -2

Exemplar

Blue Autofluorescence - Right - 20/125 -2

Exemplar

Blue Autofluorescence - Left - 20/125 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Pro1380Leu CCG>CTG IVS40+5 G>A AR
Gene:
Allele 1:
Pro1380Leu CCG>CTG
Allele 2:
IVS40+5 G>A
Inheritance:
AR
Cite this case