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StoneRounds Disease Atlas SR642

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SR642

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Homocystinuria (IID3)

Male

Male

SR642

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Homocystinuria (IID3)

Male

Male

Visit at age: 3 years

Optical Coherence Tomography - Right - 20/160 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 sc

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Infrared Fundus Photograph - Left - 20/160 sc

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Visit at age: 4 years

Fundus Photography - Right - 20/125 sc

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Fundus Photography - Left - 20/125 sc

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Visit at age: 6 years

Optical Coherence Tomography - Right - 20/100 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 sc

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Infrared Fundus Photograph - Left - 20/125 +1 sc

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Visit at age: 7 years

Goldmann Visual Field - Right - 20/125 -2 sc

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Goldmann Visual Field - Left - 20/125 -2 sc

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Optical Coherence Tomography - Right - 20/125 -2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 -2 sc

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Infrared Fundus Photograph - Left - 20/125 -2 sc

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Visit at age: 8 years

Fundus Photography - Right - 20/160 sc

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Fundus Photography - Left - 20/200 -2 sc

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Goldmann Visual Field - Right - 20/160 sc

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Goldmann Visual Field - Left - 20/200 -2 sc

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Optical Coherence Tomography - Right - 20/160 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 sc

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Infrared Fundus Photograph - Left - 20/200 -2 sc

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Visit at age: 9 years

Goldmann Visual Field - Right - 20/160 +1 sc

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Goldmann Visual Field - Left - 20/160 +1 sc

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Optical Coherence Tomography - Right - 20/160 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 +1 sc

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Infrared Fundus Photograph - Left - 20/160 +1 sc

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Visit at age: 10 years

Goldmann Visual Field - Right - 20/125 -1 sc

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Goldmann Visual Field - Left - 20/125 -1 sc

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Optical Coherence Tomography - Right - 20/125 -1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 -1 sc

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Infrared Fundus Photograph - Left - 20/125 -1 sc

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Visit at age: 11 years

Goldmann Visual Field - Right - 20/125 +2 sc

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Goldmann Visual Field - Left - 20/100 -1 sc

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Optical Coherence Tomography - Right - 20/125 +2 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/100 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 +2 sc

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Infrared Fundus Photograph - Left - 20/100 -1 sc

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Visit at age: 13 years

Fundus Photography - Right - 20/125 -2 sc

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Fundus Photography - Left - 20/125 -1 sc

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Goldmann Visual Field - Right - 20/125 -2 sc

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Goldmann Visual Field - Left - 20/125 -1 sc

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Optical Coherence Tomography - Right - 20/125 -2 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/125 -1 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/125 -2 sc

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Infrared Fundus Photograph - Left - 20/125 -1 sc

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Visit at age: 14 years

Fundus Photography - Right - 20/125 +1 sc

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Fundus Photography - Left - 20/125 +1 sc

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Optical Coherence Tomography - Right - 20/125 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 +1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 +1 sc

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Infrared Fundus Photograph - Left - 20/125 +1 sc

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/125 +2 sc

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Goldmann Visual Field - Left - 20/125 +1 sc

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Optical Coherence Tomography - Right - 20/125 +2 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/125 +1 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/125 +2 sc

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Infrared Fundus Photograph - Left - 20/125 +1 sc

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Visit at age: 16 years

Optical Coherence Tomography - Right - 20/160 +1 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/160 +1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 +1 sc

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Infrared Fundus Photograph - Left - 20/160 +1 sc

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Homocystinuria MTR Leu212 del2cTT Asn799Asp AAT>GAT AR
Disease:
Homocystinuria
Gene:
MTR
Allele 1:
Leu212 del2cTT
Allele 2:
Asn799Asp AAT>GAT
Inheritance:
AR
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