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StoneRounds Disease Atlas SR465

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SR465

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ECORD (IA2c)

Female

Female

SR465

Ladder View Download View

ECORD (IA2c)

Female

Female

Visit at age: 24 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

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/32 +1

Exemplar

Visit at age: 25 years

Goldmann Visual Field - Right - 20/40 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/32 sc

Exemplar

Optical Coherence Tomography - Right - 20/40 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/32 sc

Exemplar

Visit at age: 27 years

Goldmann Visual Field - Right - 20/40 sc

Exemplar

Goldmann Visual Field - Left - 20/32 -2 sc

Exemplar

Optical Coherence Tomography - Right - 20/40 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 sc

Exemplar

Infrared Fundus Photograph - Left - 20/32 -2 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD IMPDH1 Lys323Arg AAG>AGG   AD
Disease:
ECORD
Gene:
IMPDH1
Allele 1:
Lys323Arg AAG>AGG
Allele 2:
 
Inheritance:
AD
Cite this case