SR3010 Grid | StoneRounds

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SR3010

AD Choroideremia (IIIA1b)

Female

Female

SR3010

AD Choroideremia (IIIA1b)

Female

Female

Visit at age: 63 years

Fundus Photography - Right - 20/50

Exemplar

Fundus Photography - Left - 20/32 -1

Exemplar

Fundus Montage - Right - 20/50

Exemplar

Fundus Montage - Left - 20/32 -1

Exemplar

Goldmann Visual Field - Right - 20/50

Exemplar

Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/32 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AD Choroideremia	RPE65	Asp477Gly GAT>GGT		AD

Disease:

AD Choroideremia

Gene:

Allele 1:

Asp477Gly GAT>GGT

Allele 2:

Inheritance:

AD

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