Case
SR488
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR488
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 6 years
Fundus Photography - Right - 10/25 +1
Exemplar
Fundus Photography - Left - 10/20
Exemplar
Fundus Montage - Right - 10/25 +1
Exemplar
Fundus Montage - Left - 10/20
Exemplar
Optical Coherence Tomography - Right - 10/25 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/25 +1
Exemplar
Infrared Fundus Photograph - Left - 10/20
Exemplar
Visit at age: 8 years
Goldmann Visual Field - Right - 20/50
Exemplar
Goldmann Visual Field - Left - 20/50
Exemplar
Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/50
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/50
Exemplar
Goldmann Visual Field - Left - 20/50
Exemplar
Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/50
Exemplar
Visit at age: 10 years
Fundus Photography - Right - 20/63 +2
Exemplar
Fundus Photography - Left - 20/50 -2
Exemplar
Goldmann Visual Field - Right - 20/63 +2
Exemplar
Goldmann Visual Field - Left - 20/50 -2
Exemplar
Optical Coherence Tomography - Right - 20/63 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 +2
Exemplar
Infrared Fundus Photograph - Left - 20/50 -2
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/50 -1
Exemplar
Fundus Photography - Left - 20/50 -1
Exemplar
Fundus Montage - Right - 20/50 -1
Exemplar
Fundus Montage - Left - 20/50 -1
Exemplar
Goldmann Visual Field - Right - 20/50 -1
Exemplar
Goldmann Visual Field - Left - 20/50 -1
Exemplar
Optical Coherence Tomography - Right - 20/50 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Met58Lys ATG>AAG | XL |