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SR1767

AR Stargardt Disease (IIA)

Female

Female

SR1767

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 17 years

Goldmann Visual Field - Right - 20/160 +2

Exemplar

Goldmann Visual Field - Left - 20/125 -2

Exemplar

Visit at age: 18 years

Fundus Photography - Right - 20/125 -1

Exemplar

Fundus Photography - Left - 20/150

Exemplar

Fundus Montage - Right - 20/125 -1

Exemplar

Fundus Montage - Left - 20/150

Exemplar

Optical Coherence Tomography - Right - 20/125 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/150

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 -1

Exemplar

Infrared Fundus Photograph - Left - 20/150

Exemplar

Blue Autofluorescence - Right - 20/125 -1

Exemplar

Blue Autofluorescence - Left - 20/150

Exemplar

Visit at age: 19 years

Goldmann Visual Field - Right - 20/160 +2

Exemplar

Goldmann Visual Field - Left - 20/160 +1

Exemplar

Optical Coherence Tomography - Right - 20/160 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 +2

Exemplar

Infrared Fundus Photograph - Left - 20/160 +1

Exemplar

Blue Autofluorescence - Right - 20/160 +2

Exemplar

Blue Autofluorescence - Left - 20/160 +1

Exemplar

Visit at age: 22 years

Fundus Photography - Right - 20/125 -1

Exemplar

Fundus Photography - Left - 20/150

Exemplar

Fundus Montage - Right - 20/125 -1

Exemplar

Fundus Montage - Left - 20/150

Exemplar

Goldmann Visual Field - Right - 20/125 -1

Exemplar

Goldmann Visual Field - Left - 20/150

Exemplar

Optical Coherence Tomography - Right - 20/125 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/150

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 -1

Exemplar

Infrared Fundus Photograph - Left - 20/150

Exemplar

Blue Autofluorescence - Right - 20/125 -1

Exemplar

Blue Autofluorescence - Left - 20/150

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Ala1038Val GCC>GTC Lys1182 del1aaG AR
Gene:
Allele 1:
Ala1038Val GCC>GTC
Allele 2:
Lys1182 del1aaG
Inheritance:
AR
Cite this case