SR741 Grid | StoneRounds

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SR741

SECORD (IA2b)

Female

Female

SR741

SECORD (IA2b)

Female

Female

Visit at age: 4 years

Fundus Photography - Right - 20/250

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Fundus Photography - Left - 20/320

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Visit at age: 6 years

Fundus Photography - Right - 10/100

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Fundus Photography - Left - 10/100

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Optical Coherence Tomography - Right - 10/100

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Optical Coherence Tomography - Left - 10/100

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Infrared Fundus Photograph - Right - 10/100

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Infrared Fundus Photograph - Left - 10/100

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Visit at age: 7 years

Optical Coherence Tomography - Right - 20/200

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Optical Coherence Tomography - Left - 20/200 -2

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Infrared Fundus Photograph - Right - 20/200

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Infrared Fundus Photograph - Left - 20/200 -2

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Visit at age: 8 years

Goldmann Visual Field - Right - 20/160 -1

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Goldmann Visual Field - Left - 20/200 -1

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Visit at age: 9 years

Optical Coherence Tomography - Right - 10/80 +1

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Optical Coherence Tomography - Left - 10/80 -2

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Infrared Fundus Photograph - Right - 10/80 +1

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Infrared Fundus Photograph - Left - 10/80 -2

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Visit at age: 11 years

Fundus Photography - Right - 20/160 +1

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Fundus Photography - Left - 20/200 -1

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Goldmann Visual Field - Right - 20/160 +1

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Goldmann Visual Field - Left - 20/200 -1

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Optical Coherence Tomography - Right - 20/160 +1

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/200 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/160 +1

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Infrared Fundus Photograph - Left - 20/200 -1

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Visit at age: 11 years (Visit 2)

Fundus Photography - Right - 20/200 -2

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Fundus Photography - Left - 20/200

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Goldmann Visual Field - Right - 20/200 -2

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Goldmann Visual Field - Left - 20/200

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Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

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Infrared Fundus Photograph - Left - 20/200

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Visit at age: 11 years (Visit 3)

Fundus Photography - Right - 20/320 +2

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Fundus Photography - Left - 20/200 -1

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Goldmann Visual Field - Right - 20/320 +2

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Goldmann Visual Field - Left - 20/200 -1

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Optical Coherence Tomography - Right - 20/320 +2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/200 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/320 +2

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Infrared Fundus Photograph - Left - 20/200 -1

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Visit at age: 11 years (Visit 4)

Fundus Photography - Right - 20/160

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Fundus Photography - Left - 20/192

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Goldmann Visual Field - Right - 20/160

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Goldmann Visual Field - Left - 20/192

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Optical Coherence Tomography - Right - 20/160

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Optical Coherence Tomography - Left - 20/192

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Infrared Fundus Photograph - Right - 20/160

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Infrared Fundus Photograph - Left - 20/192

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Visit at age: 11 years (Visit 5)

Fundus Photography - Right - 10/80 -2

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Fundus Photography - Left - 10/100 -1

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Goldmann Visual Field - Right - 10/80 -2

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Goldmann Visual Field - Left - 10/100 -1

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Optical Coherence Tomography - Right - 10/80 -2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 10/100 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 10/80 -2

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Infrared Fundus Photograph - Left - 10/100 -1

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Visit at age: 12 years

Fundus Photography - Right - 20/176

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Fundus Photography - Left - 20/184

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Goldmann Visual Field - Right - 20/176

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Goldmann Visual Field - Left - 20/184

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Optical Coherence Tomography - Right - 20/176

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/184

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/176

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Infrared Fundus Photograph - Left - 20/184

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Visit at age: 12 years (Visit 2)

Fundus Photography - Right - 20/160 -2

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Fundus Photography - Left - 20/160 -2

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Goldmann Visual Field - Right - 20/160 -2

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Goldmann Visual Field - Left - 20/160 -2

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Optical Coherence Tomography - Right - 20/160 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/160 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/160 -2

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Infrared Fundus Photograph - Left - 20/160 -2

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Visit at age: 12 years (Visit 3)

Goldmann Visual Field - Right - 20/200

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Goldmann Visual Field - Left - 20/150

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Visit at age: 13 years

Fundus Photography - Right - 20/200

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Fundus Photography - Left - 20/125

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Fundus Montage - Right - 20/200

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Fundus Montage - Left - 20/125

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Goldmann Visual Field - Right - 20/200

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Goldmann Visual Field - Left - 20/125

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Visit at age: 13 years (Visit 2)

Fundus Photography - Right - 20/160

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Fundus Photography - Left - 20/160

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Goldmann Visual Field - Right - 20/160

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Goldmann Visual Field - Left - 20/160

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Optical Coherence Tomography - Right - 20/160

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/160

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/160

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Infrared Fundus Photograph - Left - 20/160

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Visit at age: 14 years

Fundus Photography - Right - 20/200 +1

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Fundus Photography - Left - 20/160 -2

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Goldmann Visual Field - Right - 20/200 +1

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Goldmann Visual Field - Left - 20/160 -2

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Optical Coherence Tomography - Right - 20/200 +1

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/160 -2

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/200 +1

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Infrared Fundus Photograph - Left - 20/160 -2

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Visit at age: 15 years

Fundus Photography - Right - 20/200 -3

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Fundus Photography - Left - 20/200 -2

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Goldmann Visual Field - Right - 20/200 -3

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Goldmann Visual Field - Left - 20/200 -2

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Optical Coherence Tomography - Right - 20/200 -3

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/200 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/200 -3

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Infrared Fundus Photograph - Left - 20/200 -2

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Visit at age: 16 years

Fundus Photography - Right - 20/160 +2

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Fundus Photography - Left - 20/125 -1

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Goldmann Visual Field - Right - 20/160 +2

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Goldmann Visual Field - Left - 20/125 -1

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Optical Coherence Tomography - Right - 20/160 +2

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/125 -1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/160 +2

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Infrared Fundus Photograph - Left - 20/125 -1

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Visit at age: 17 years

Fundus Photography - Right - 20/125 -2

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Fundus Photography - Left - 20/125 -2

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Goldmann Visual Field - Right - 20/125 -2

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Goldmann Visual Field - Left - 20/125 -2

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Optical Coherence Tomography - Right - 20/125 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/125 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/125 -2

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Infrared Fundus Photograph - Left - 20/125 -2

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Visit at age: 19 years

Fundus Photography - Right - 20/200 -2

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Fundus Photography - Left - 20/160

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Goldmann Visual Field - Right - 20/200 -2

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Goldmann Visual Field - Left - 20/160

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Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/160

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

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Infrared Fundus Photograph - Left - 20/160

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Visit at age: 20 years

Fundus Photography - Right - 20/200 -2

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Fundus Photography - Left - 20/200 -1

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Goldmann Visual Field - Right - 20/200 -2

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Goldmann Visual Field - Left - 20/200 -1

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Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/200 -1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

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Infrared Fundus Photograph - Left - 20/200 -1

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Visit at age: 21 years

Fundus Photography - Right - 10/200 -2

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Fundus Photography - Left - 10/160 +1

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Goldmann Visual Field - Right - 10/200 -2

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Goldmann Visual Field - Left - 10/160 +1

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Optical Coherence Tomography - Right - 10/200 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/160 +1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 10/200 -2

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Infrared Fundus Photograph - Left - 10/160 +1

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Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
SECORD	RPE65	IVS1+5 G>A	Lys297 del1 aggA	AR

Disease:

Gene:

Allele 1:

IVS1+5 G>A

Allele 2:

Lys297 del1 aggA

Inheritance:

AR

Cite this case