Case
SR677
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR677
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 50 years
Fundus Photography - Right - 20/15 -2
Exemplar
Fundus Photography - Left - 20/15
Exemplar
Goldmann Visual Field - Right - 20/15 -2
Exemplar
Goldmann Visual Field - Left - 20/15
Exemplar
Visit at age: 50 years (Visit 2)
Goldmann Visual Field - Right - 20/15 -2
Exemplar
Goldmann Visual Field - Left - 20/15
Exemplar
Visit at age: 54 years
Goldmann Visual Field - Right - 20/20 +1
Exemplar
Goldmann Visual Field - Left - 20/16
Exemplar
Visit at age: 58 years
Fundus Photography - Right - 20/16 -2
Exemplar
Fundus Photography - Left - 20/16 +1
Exemplar
Fundus Montage - Right - 20/16 -2
Exemplar
Fundus Montage - Left - 20/16 +1
Exemplar
Goldmann Visual Field - Right - 20/16 -2
Exemplar
Goldmann Visual Field - Left - 20/16 +1
Exemplar
Optical Coherence Tomography - Right - 20/16 -2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/16 +1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/16 -2
Exemplar
Infrared Fundus Photograph - Left - 20/16 +1
Exemplar
Visit at age: 65 years
Fundus Photography - Right - 20/20 +1
Exemplar
Fundus Photography - Left - 20/25 +1
Exemplar
Fundus Montage - Right - 20/20 +1
Exemplar
Fundus Montage - Left - 20/25 +1
Exemplar
Goldmann Visual Field - Right - 20/20 +1
Exemplar
Goldmann Visual Field - Left - 20/25 +1
Exemplar
Optical Coherence Tomography - Right - 20/20 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 +1
Exemplar
Infrared Fundus Photograph - Left - 20/25 +1
Exemplar
Visit at age: 67 years
Goldmann Visual Field - Right - 20/20 -2
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Visit at age: 70 years
Goldmann Visual Field - Right - 20/20 -1
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Visit at age: 71 years
Optical Coherence Tomography - Right - 20/30
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Visit at age: 71 years (Visit 2)
Optical Coherence Tomography - Right - 20/30 -1 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/20 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/30 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 sc
Exemplar
Visit at age: 71 years (Visit 3)
Optical Coherence Tomography - Right - 20/25 -2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/25 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/25 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
AR Retinitis Pigmentosa |
MAK |
Lys429 insAlu_353bp |
Lys429 insAlu_353bp |
AR |
Allele 1:
Lys429 insAlu_353bp
Allele 2:
Lys429 insAlu_353bp
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis