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SR2186

AR Stargardt Disease (IIA)

Female

Female

SR2186

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 35 years

Fundus Photography - Right - 20/50

Exemplar

Fundus Photography - Left - 20/40 -2

Exemplar

Fluorescein Angiography - Right - 20/50

Exemplar

Fluorescein Angiography - Left - 20/40 -2

Exemplar

Visit at age: 38 years

Fundus Photography - Right - 20/50 -2

Exemplar

Fundus Photography - Left - 20/100 -1

Exemplar

Visit at age: 41 years

Fundus Photography - Right - 20/200

Exemplar

Fundus Photography - Left - 20/200

Exemplar

Visit at age: 70 years

Fundus Photography - Right - 20/300 +2 sc

Exemplar

Fundus Photography - Left - 20/300 +2 sc

Exemplar

Fundus Montage - Right - 20/300 +2 sc

Exemplar

Fundus Montage - Left - 20/300 +2 sc

Exemplar

Goldmann Visual Field - Right - 20/300 +2 sc

Exemplar

Goldmann Visual Field - Left - 20/300 +2 sc

Exemplar

Optical Coherence Tomography - Right - 20/300 +2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/300 +2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/300 +2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/300 +2 sc

Exemplar

Blue Autofluorescence - Right - 20/300 +2 sc

Exemplar

Blue Autofluorescence - Left - 20/300 +2 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Trp1408Arg TGG>CGG Gly1961Glu GGA>GAA AR
Gene:
Allele 1:
Trp1408Arg TGG>CGG
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR
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