Case
SR1119
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR1119
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 11 years
Fundus Photography - Right - 20/40 -1 sc
Exemplar
Fundus Photography - Left - 20/63 -1 sc
Exemplar
Fundus Montage - Right - 20/40 -1 sc
Exemplar
Fundus Montage - Left - 20/63 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/40 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/63 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/40 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/63 -1 sc
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/40 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/80 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/40 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/80 +1 sc
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Visit at age: 20 years
Fundus Photography - Right - 20/32 -1
Exemplar
Fundus Photography - Left - 20/50 -2
Exemplar
Fundus Montage - Right - 20/32 -1
Exemplar
Fundus Montage - Left - 20/50 -2
Exemplar
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/50 -2
Exemplar
Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
Exemplar
Infrared Fundus Photograph - Left - 20/50 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Thr801 del2acAG | XL |