Case
SR46
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR46
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 18 years
Fundus Photography - Right - 10/125 -1
Exemplar
Fundus Photography - Left - 10/200
Exemplar
Fundus Montage - Right - 10/125 -1
Exemplar
Fundus Montage - Left - 10/200
Exemplar
Goldmann Visual Field - Right - 10/125 -1
Exemplar
Goldmann Visual Field - Left - 10/200
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 20/400
Exemplar
Goldmann Visual Field - Left - 20/400
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 2/120
Exemplar
Goldmann Visual Field - Left - 5/600
Exemplar
Optical Coherence Tomography - Right - 2/120
Exemplar
Optical Coherence Tomography - Left - 5/600
Exemplar
Infrared Fundus Photograph - Right - 2/120
Exemplar
Infrared Fundus Photograph - Left - 5/600
Exemplar
Visit at age: 22 years
Goldmann Visual Field - Right - 20/400
Exemplar
Goldmann Visual Field - Left - Count Fingers
Exemplar
Optical Coherence Tomography - Right - 20/400
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/400
Exemplar
Infrared Fundus Photograph - Left - Count Fingers
Exemplar
Visit at age: 24 years
Goldmann Visual Field - Right - 2/300
Exemplar
Goldmann Visual Field - Left - <1/700
Exemplar
Optical Coherence Tomography - Right - 2/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - <1/700
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 2/300
Exemplar
Infrared Fundus Photograph - Left - <1/700
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Arg120Stop CGA>TGA | XL |