Case
SR238
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Hidden
SR238
Student Mode
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 |
Allele 1:
Arg46Stop CGA>TGA