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StoneRounds Disease Atlas SR1861

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SR1861

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MELAS (IID1b)

Male

Male

SR1861

Ladder View Download View

MELAS (IID1b)

Male

Male

Visit at age: 41 years

Fundus Photography - Right - 20/40 +2

Exemplar

Fundus Photography - Left - 20/40 +2

Exemplar

Goldmann Visual Field - Right - 20/40 +2

Exemplar

Goldmann Visual Field - Left - 20/40 +2

Exemplar

Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

Exemplar

Infrared Fundus Photograph - Left - 20/40 +2

Exemplar

Visit at age: 42 years

Goldmann Visual Field - Right - 20/40

Exemplar

Goldmann Visual Field - Left - 20/50 -1

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MELAS MT-TL1 3243 A>G   MT
Disease:
MELAS
Gene:
MT-TL1
Allele 1:
3243 A>G
Allele 2:
 
Inheritance:
MT
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