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StoneRounds Disease Atlas SR337

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SR337

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Foveal Hypoplasia (IIIG)

Female

Female

SR337

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Foveal Hypoplasia (IIIG)

Female

Female

Visit at age: 55 years

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OCT Stack

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Visit at age: 56 years

Optical Coherence Tomography - Right - 20/100 +1

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OCT Stack

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Visit at age: 57 years

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OCT Stack

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OCT Stack

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Visit at age: 57 years (Visit 2)

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Visit at age: 57 years (Visit 3)

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Visit at age: 57 years (Visit 4)

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OCT Stack

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Visit at age: 58 years

Goldmann Visual Field - Right - 20/100

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Optical Coherence Tomography - Right - 20/100

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OCT Stack

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Visit at age: 58 years (Visit 2)

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Visit at age: 59 years

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OCT Stack

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Visit at age: 59 years (Visit 2)

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Visit at age: 60 years

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Visit at age: 60 years (Visit 2)

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Visit at age: 61 years

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Visit at age: 62 years

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Visit at age: 62 years (Visit 2)

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Visit at age: 63 years

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Visit at age: 63 years (Visit 2)

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Visit at age: 65 years

Optical Coherence Tomography - Right - 20/250

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OCT Stack
OCT Stack

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OCT Stack
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Visit at age: 66 years

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OCT Stack
OCT Stack

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OCT Stack
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Visit at age: 67 years

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Foveal Hypoplasia PAX6 Pro76Leu CCG>CTG   AD
Disease:
Foveal Hypoplasia
Gene:
PAX6
Allele 1:
Pro76Leu CCG>CTG
Allele 2:
 
Inheritance:
AD
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