Case
SR90
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR90
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 42 years
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Visit at age: 42 years (Visit 2)
Fundus Photography - Right - 20/25 +2
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Visit at age: 52 years
Fundus Photography - Right - 20/50 -1
Exemplar
Fundus Photography - Left - 20/160 +1
Exemplar
Fundus Montage - Right - 20/50 -1
Exemplar
Fundus Montage - Left - 20/160 +1
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Goldmann Visual Field - Right - 20/50 -1
Exemplar
Goldmann Visual Field - Left - 20/160 +1
Exemplar
Optical Coherence Tomography - Right - 20/50 -1
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/160 +1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 +1
Exemplar
Visit at age: 55 years
Goldmann Visual Field - Right - 20/125 sc
Exemplar
Goldmann Visual Field - Left - 20/600 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/600 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 sc
Exemplar
Infrared Fundus Photograph - Left - 20/600 sc
Exemplar
Visit at age: 56 years
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 3'
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 3'
Exemplar
Visit at age: 57 years
Goldmann Visual Field - Right - 20/50 -2
Exemplar
Goldmann Visual Field - Left - 5/300
Exemplar
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/300
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
Exemplar
Infrared Fundus Photograph - Left - 5/300
Exemplar
Visit at age: 59 years
Goldmann Visual Field - Right - 20/100 -1
Exemplar
Goldmann Visual Field - Left - 10/180
Exemplar
Optical Coherence Tomography - Right - 20/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/180
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1
Exemplar
Infrared Fundus Photograph - Left - 10/180
Exemplar
Visit at age: 62 years
Goldmann Visual Field - Right - 10/125 -2
Exemplar
Goldmann Visual Field - Left - 10/125 -1
Exemplar
Optical Coherence Tomography - Right - 10/125 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125 -2
Exemplar
Infrared Fundus Photograph - Left - 10/125 -1
Exemplar
Visit at age: 64 years
Goldmann Visual Field - Right - 10/80
Exemplar
Goldmann Visual Field - Left - 10/125 +1
Exemplar
Optical Coherence Tomography - Right - 10/80
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/80
Exemplar
Infrared Fundus Photograph - Left - 10/125 +1
Exemplar
Visit at age: 66 years
Optical Coherence Tomography - Right - 10/80 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/80 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | USH2A | Arg4081 ins1cG | Arg4192His CGC>CAC | AR |
Disease:
Gene:
Allele 1:
Arg4081 ins1cG
Allele 2:
Arg4192His CGC>CAC
Inheritance:
AR