Case
SR352
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR352
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 17 years
Fundus Photography - Right - 10/100 -2
Exemplar
Fundus Photography - Left - 10/100 -2
Exemplar
Fundus Montage - Right - 10/100 -2
Exemplar
Fundus Montage - Left - 10/100 -2
Exemplar
Goldmann Visual Field - Right - 10/100 -2
Exemplar
Goldmann Visual Field - Left - 10/100 -2
Exemplar
Optical Coherence Tomography - Right - 10/100 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/100 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 -2
Exemplar
Infrared Fundus Photograph - Left - 10/100 -2
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 10/125 -1
Exemplar
Goldmann Visual Field - Left - 10/160 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Deletion Exon 2 | XL |