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SR2268

APMPPE (0K)

Male

Male

SR2268

APMPPE (0K)

Male

Male

Visit at age: 18 years

Fundus Photography - Right - 20/16 -1

Exemplar

Fundus Photography - Left - 20/16 -1

Exemplar

Fundus Montage - Right - 20/16 -1

Exemplar

Fundus Montage - Left - 20/16 -1

Exemplar

Goldmann Visual Field - Right - 20/16 -1

Exemplar

Goldmann Visual Field - Left - 20/16 -1

Exemplar

Optical Coherence Tomography - Right - 20/16 -1

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 -1

Exemplar

Infrared Fundus Photograph - Left - 20/16 -1

Exemplar

Blue Autofluorescence - Right - 20/16 -1

Exemplar

Blue Autofluorescence - Left - 20/16 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
APMPPE N/A N/A N/A Non-Mendelian
Disease:
Gene:
Allele 1:
N/A
Allele 2:
N/A
Inheritance:
Non-Mendelian
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