Case
SR195
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR195
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 7 years
Fundus Photography - Right - 20/60
Exemplar
Fundus Photography - Left - 20/70 +2
Exemplar
Fundus Montage - Right - 20/60
Exemplar
Fundus Montage - Left - 20/70 +2
Exemplar
Visit at age: 7 years (Visit 2)
Goldmann Visual Field - Right - 20/70 -1
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/100 sc
Exemplar
Goldmann Visual Field - Left - 20/125 sc
Exemplar
Visit at age: 10 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/80
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/60
Exemplar
Goldmann Visual Field - Left - 20/70
Exemplar
Optical Coherence Tomography - Right - 20/60
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/70
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/60
Exemplar
Infrared Fundus Photograph - Left - 20/70
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/100 -2
Exemplar
Goldmann Visual Field - Left - 20/100 -2
Exemplar
Optical Coherence Tomography - Right - 20/100 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2
Exemplar
Infrared Fundus Photograph - Left - 20/100 -2
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/80 -2
Exemplar
Goldmann Visual Field - Left - 20/80 -2
Exemplar
Optical Coherence Tomography - Right - 20/80 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -2
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 20/100 -1
Exemplar
Goldmann Visual Field - Left - 20/100 -1
Exemplar
Optical Coherence Tomography - Right - 20/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Glu956 del1gA | XL |