Case
SR682
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR682
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 15 years
Fundus Photography - Right - 20/30
Exemplar
Fundus Photography - Left - 20/30
Exemplar
Fundus Montage - Right - 20/30
Exemplar
Fundus Montage - Left - 20/30
Exemplar
Goldmann Visual Field - Right - 20/30
Exemplar
Goldmann Visual Field - Left - 20/30
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 20/32 -2
Exemplar
Goldmann Visual Field - Left - 20/32 +1
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/40 -2
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/40 -2
Exemplar
Visit at age: 22 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/40 +2
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/40 +2
Exemplar
Visit at age: 24 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Visit at age: 26 years
Fundus Photography - Right - 20/40 -1
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Goldmann Visual Field - Right - 20/40 -1
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Blue Autofluorescence - Right - 20/40 -1
Exemplar
Blue Autofluorescence - Left - 20/40
Exemplar
Visit at age: 28 years
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/40 -2
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Gly893 del2gaaGG | XL |