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StoneRounds Disease Atlas SR1838

SR1838

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MIDD (IID1a)

Female

Female

SR1838

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MIDD (IID1a)

Female

Female

Visit at age: 41 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

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Fundus Montage - Right - 20/20

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Fundus Montage - Left - 20/20

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Goldmann Visual Field - Right - 20/20

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

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Infrared Fundus Photograph - Left - 20/20

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Blue Autofluorescence - Right - 20/20

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Blue Autofluorescence - Left - 20/20

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Visit at age: 42 years

Optical Coherence Tomography - Right - 20/15 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/15 -2

Exemplar

Infrared Fundus Photograph - Left - 20/15 -1

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Visit at age: 44 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/16

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Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/16

Exemplar

Blue Autofluorescence - Right - 20/20

Exemplar

Blue Autofluorescence - Left - 20/16

Exemplar

Visit at age: 45 years

Optical Coherence Tomography - Right - 20/16 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 -2

Exemplar

Infrared Fundus Photograph - Left - 20/16 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MIDD MT-TL1 3243 A>G   MT
Disease:
MIDD
Gene:
MT-TL1
Allele 1:
3243 A>G
Allele 2:
 
Inheritance:
MT
Cite this case