Case
SR403
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR403
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 66 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Fundus Montage - Right - Light Perception
Exemplar
Fundus Montage - Left - Light Perception
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 69 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 71 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 73 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 74 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 76 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Glu726Stop GAG>TAG | XL |