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StoneRounds Disease Atlas SR64

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SR64

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Norrie Disease (IIIE2a)

Male

Male

SR64

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Norrie Disease (IIIE2a)

Male

Male

Visit at age: 35 months

Fundus Photography - Right - Light Perception

Exemplar

Fundus Photography - Left - 20/25 +1

Exemplar

Visit at age: 4 years

Fundus Photography - Left - Count Fingers 5'

Exemplar

Visit at age: 4 years (Visit 2)

Fundus Photography - Left - 20/60

Exemplar

Visit at age: 15 years

Fundus Photography - Right - No Light Perception

Exemplar

Fundus Photography - Left - 20/25 +2

Exemplar

B-Scan Ultrasonography - Right - No Light Perception

Exemplar

Visit at age: 19 years

B-Scan Ultrasonography - Right - No Light Perception

Exemplar

Visit at age: 21 years

Fundus Photography - Left - 20/32 -1

Exemplar

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/32 -1

Exemplar

B-Scan Ultrasonography - Right - No Light Perception

Exemplar

Visit at age: 22 years

Fundus Photography - Left - 20/32 -1

Exemplar

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/32 -1

Exemplar

B-Scan Ultrasonography - Right - No Light Perception

Exemplar

Visit at age: 23 years

Optical Coherence Tomography - Left - 20/32 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/32 +1

Exemplar

B-Scan Ultrasonography - Right - No Light Perception

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Norrie Disease NDP Gly112Glu GGG>GAG   XL
Disease:
Norrie Disease
Gene:
NDP
Allele 1:
Gly112Glu GGG>GAG
Allele 2:
 
Inheritance:
XL
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