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SR2161

AR Stargardt Disease (IIA)

Female

Female

SR2161

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 16 years

Fundus Photography - Right - 20/50 -2

Exemplar

Fundus Photography - Left - 20/50 -1

Exemplar

Fundus Montage - Right - 20/50 -2

Exemplar

Fundus Montage - Left - 20/50 -1

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Goldmann Visual Field - Right - 20/50 -2

Exemplar

Goldmann Visual Field - Left - 20/50 -1

Exemplar

Optical Coherence Tomography - Right - 20/50 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -2

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1

Exemplar

Blue Autofluorescence - Right - 20/50 -2

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Blue Autofluorescence - Left - 20/50 -1

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Visit at age: 17 years

Fundus Photography - Right - 20/40 -2

Exemplar

Fundus Photography - Left - 20/40

Exemplar

Goldmann Visual Field - Right - 20/40 -2

Exemplar

Goldmann Visual Field - Left - 20/40

Exemplar

Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

Exemplar

Infrared Fundus Photograph - Left - 20/40

Exemplar

Blue Autofluorescence - Right - 20/40 -2

Exemplar

Blue Autofluorescence - Left - 20/40

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/63 -2 sc

Exemplar

Goldmann Visual Field - Left - 20/50 -2 sc

Exemplar

Optical Coherence Tomography - Right - 20/63 -2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 -2 sc

Exemplar

Blue Autofluorescence - Right - 20/63 -2 sc

Exemplar

Blue Autofluorescence - Left - 20/50 -2 sc

Exemplar

Visit at age: 22 years

Fundus Photography - Right - 20/80 -1

Exemplar

Fundus Photography - Left - 20/80 -2

Exemplar

Goldmann Visual Field - Right - 20/80 -1

Exemplar

Goldmann Visual Field - Left - 20/80 -2

Exemplar

Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1

Exemplar

Infrared Fundus Photograph - Left - 20/80 -2

Exemplar

Blue Autofluorescence - Right - 20/80 -1

Exemplar

Blue Autofluorescence - Left - 20/80 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Val256Val GTG>GTT Gly1961Glu GGA>GAA AR
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR
Cite this case