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SR271

AR Stargardt Disease (IIA)

Male

Male

SR271

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 16 years

Fundus Photography - Right - 20/200 sc

Exemplar

Fundus Photography - Left - 20/250 sc

Exemplar

Fundus Montage - Right - 20/200 sc

Exemplar

Fundus Montage - Left - 20/250 sc

Exemplar

Goldmann Visual Field - Right - 20/200 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Optical Coherence Tomography - Right - 20/200 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/250 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/200 sc

Exemplar

Infrared Fundus Photograph - Left - 20/250 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Glu1087Lys GAA>AAA Glu1087Lys GAA>AAA AR
Gene:
Allele 1:
Glu1087Lys GAA>AAA
Allele 2:
Glu1087Lys GAA>AAA
Inheritance:
AR
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