Case
SR2762
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR2762
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 48 years
Fundus Photography - Right - Hand Motion 1'
Exemplar
Fundus Photography - Left - Hand Motion 1'
Exemplar
Optical Coherence Tomography - Right - Hand Motion 1'
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion 1'
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1'
Exemplar
Infrared Fundus Photograph - Left - Hand Motion 1'
Exemplar
Visit at age: 49 years
Fundus Photography - Right - Count Fingers
Exemplar
Fundus Photography - Left - Count Fingers
Exemplar
Fundus Montage - Right - Count Fingers
Exemplar
Fundus Montage - Left - Count Fingers
Exemplar
Optical Coherence Tomography - Right - Count Fingers
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers
Exemplar
Infrared Fundus Photograph - Left - Count Fingers
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Trp186Stop TGG>TGA | XL |