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SR238

Pattern Dystrophy (IIC)

Male

Male

SR238

Pattern Dystrophy (IIC)

Male

Male

Visit at age: 60 years

Fundus Photography - Right - 20/50

Exemplar

Fundus Photography - Left - 20/50

Exemplar

Goldmann Visual Field - Right - 20/50

Exemplar

Goldmann Visual Field - Left - 20/50

Exemplar

Visit at age: 63 years

Fundus Photography - Right - 20/50 -2

Exemplar

Fundus Photography - Left - 20/25 -1

Exemplar

Goldmann Visual Field - Right - 20/50 -2

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/50 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -2

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Visit at age: 65 years

Goldmann Visual Field - Right - 20/50

Exemplar

Goldmann Visual Field - Left - 20/25 -2

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/25 -2

Exemplar

Visit at age: 68 years

Optical Coherence Tomography - Right - 20/63

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63

Exemplar

Infrared Fundus Photograph - Left - 20/25 -2

Exemplar

Blue Autofluorescence - Right - 20/63

Exemplar

Blue Autofluorescence - Left - 20/25 -2

Exemplar

Visit at age: 71 years

Goldmann Visual Field - Right - 20/63 -1

Exemplar

Goldmann Visual Field - Left - 20/80

Exemplar

Optical Coherence Tomography - Right - 20/63 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -1

Exemplar

Infrared Fundus Photograph - Left - 20/80

Exemplar

Blue Autofluorescence - Right - 20/63 -1

Exemplar

Blue Autofluorescence - Left - 20/80

Exemplar

Visit at age: 74 years

Fundus Photography - Right - 20/200 -2

Exemplar

Fundus Photography - Left - 20/80 -2

Exemplar

Fundus Montage - Right - 20/200 -2

Exemplar

Fundus Montage - Left - 20/80 -2

Exemplar

Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

Exemplar

Infrared Fundus Photograph - Left - 20/80 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Arg46Stop CGA>TGA   AD
Gene:
Allele 1:
Arg46Stop CGA>TGA
Allele 2:
 
Inheritance:
AD
Cite this case