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SR2695

AR Stargardt Disease (IIA)

Male

Male

SR2695

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 5 years

Optical Coherence Tomography - Right - 20/25 +1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/25 +1 sc

Exemplar

Visit at age: 7 years

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/40 +2

Exemplar

Visit at age: 8 years

Goldmann Visual Field - Right - 20/30 sc

Exemplar

Goldmann Visual Field - Left - 20/40 +2 sc

Exemplar

Optical Coherence Tomography - Right - 20/30 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 +2 sc

Exemplar

Visit at age: 9 years

Goldmann Visual Field - Right - 20/40 sc

Exemplar

Goldmann Visual Field - Left - 20/40 +1 sc

Exemplar

Optical Coherence Tomography - Right - 20/40 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 +1 sc

Exemplar

Blue Autofluorescence - Right - 20/40 sc

Exemplar

Blue Autofluorescence - Left - 20/40 +1 sc

Exemplar

Visit at age: 10 years

Fundus Photography - Right - 20/50 +1 sc

Exemplar

Fundus Photography - Left - 20/40 -2 sc

Exemplar

Optical Coherence Tomography - Right - 20/50 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2 sc

Exemplar

Blue Autofluorescence - Right - 20/50 +1 sc

Exemplar

Blue Autofluorescence - Left - 20/40 -2 sc

Exemplar

Visit at age: 11 years

Goldmann Visual Field - Right - 20/40 -1

Exemplar

Goldmann Visual Field - Left - 20/40 -2

Exemplar

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2

Exemplar

Visit at age: 13 years

Goldmann Visual Field - Right - 20/200 +2

Exemplar

Goldmann Visual Field - Left - 20/160 -2

Exemplar

Optical Coherence Tomography - Right - 20/200 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 +2

Exemplar

Infrared Fundus Photograph - Left - 20/160 -2

Exemplar

Blue Autofluorescence - Right - 20/200 +2

Exemplar

Blue Autofluorescence - Left - 20/160 -2

Exemplar

Visit at age: 14 years

Optical Coherence Tomography - Right - 10/100 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/100 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/100 -1

Exemplar

Infrared Fundus Photograph - Left - 10/100 +2

Exemplar

Blue Autofluorescence - Right - 10/100 -1

Exemplar

Blue Autofluorescence - Left - 10/100 +2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 IVS21-2 A>G Pro1380Leu CCG>CTG AR
Gene:
Allele 1:
IVS21-2 A>G
Allele 2:
Pro1380Leu CCG>CTG
Inheritance:
AR
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