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StoneRounds Disease Atlas SR1070

SR1070

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Foveal Hypoplasia (IIIG)

Female

Female

SR1070

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Foveal Hypoplasia (IIIG)

Female

Female

Visit at age: 31 years

Fundus Photography - Right - 20/80

Exemplar

Fundus Photography - Left - 20/100

Exemplar

Fundus Montage - Right - 20/80

Exemplar

Fundus Montage - Left - 20/100

Exemplar

Goldmann Visual Field - Right - 20/80

Exemplar

Goldmann Visual Field - Left - 20/100

Exemplar

Visit at age: 41 years

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/80

Exemplar

Infrared Fundus Photograph - Left - 20/100

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Foveal Hypoplasia PAX6 Val126Asp GTT>GAT   AD
Disease:
Foveal Hypoplasia
Gene:
PAX6
Allele 1:
Val126Asp GTT>GAT
Allele 2:
 
Inheritance:
AD
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