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StoneRounds Disease Atlas SR26

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SR26

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Syndromic Photoreceptor Disease (IB)

Male

Male

SR26

Ladder View Download View

Syndromic Photoreceptor Disease (IB)

Male

Male

Visit at age: 13 years

Fundus Photography - Right - 20/40 -1

Exemplar

Fundus Photography - Left - 20/63 +1

Exemplar

Fundus Montage - Right - 20/40 -1

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Fundus Montage - Left - 20/63 +1

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Goldmann Visual Field - Right - 20/40 -1

Exemplar

Goldmann Visual Field - Left - 20/63 +1

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Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/63 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

Exemplar

Infrared Fundus Photograph - Left - 20/63 +1

Exemplar

Visit at age: 14 years

Goldmann Visual Field - Right - 20/40

Exemplar

Goldmann Visual Field - Left - 20/40 -1

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1

Exemplar

Visit at age: 14 years (Visit 2)

Goldmann Visual Field - Right - 20/32 -1

Exemplar

Goldmann Visual Field - Left - 20/32 -2

Exemplar

Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

Exemplar

Infrared Fundus Photograph - Left - 20/32 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Syndromic Photoreceptor Disease WDR19 Leu710Ser TTG>TCG Arg1022 del2agAT AR
Disease:
Syndromic Photoreceptor Disease
Gene:
WDR19
Allele 1:
Leu710Ser TTG>TCG
Allele 2:
Arg1022 del2agAT
Inheritance:
AR
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