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SR2580

AR Stargardt Disease (IIA)

Male

Male

SR2580

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 36 years

Fundus Photography - Right - 20/25 -1

Exemplar

Fundus Photography - Left - 20/25 -1

Exemplar

Goldmann Visual Field - Right - 20/25 -1

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Blue Autofluorescence - Right - 20/25 -1

Exemplar

Blue Autofluorescence - Left - 20/25 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Gly1961Glu GGA>GAA Gly2074Val GGC>GTC AR
Gene:
Allele 1:
Gly1961Glu GGA>GAA
Allele 2:
Gly2074Val GGC>GTC
Inheritance:
AR
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