Case
SR425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 21 years
Fundus Photography - Right - 5/400 sc
Exemplar
Fundus Photography - Left - 5/200 sc
Exemplar
Fundus Montage - Right - 5/400 sc
Exemplar
Fundus Montage - Left - 5/200 sc
Exemplar
Goldmann Visual Field - Right - 5/400 sc
Exemplar
Goldmann Visual Field - Left - 5/200 sc
Exemplar
Optical Coherence Tomography - Right - 5/400 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/400 sc
Exemplar
Infrared Fundus Photograph - Left - 5/200 sc
Exemplar
Visit at age: 24 years
Goldmann Visual Field - Right - 3/225 sc
Exemplar
Goldmann Visual Field - Left - 3/200 sc
Exemplar
Optical Coherence Tomography - Right - 3/225 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 3/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 3/225 sc
Exemplar
Infrared Fundus Photograph - Left - 3/200 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Phe128 del2gtcTT | XL |