Case
SR1744
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
Hidden
SR1744
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
Visit at age: 31 years
Fundus Photography - Right - 20/20 -1
Exemplar
Fundus Photography - Left - 20/20
Exemplar
Fundus Montage - Right - 20/20 -1
Exemplar
Fundus Montage - Left - 20/20
Exemplar
Goldmann Visual Field - Right - 20/20 -1
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Visit at age: 38 years
Optical Coherence Tomography - Right - 20/16 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/16 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/16 -1
Exemplar
Infrared Fundus Photograph - Left - 20/16 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Gln229 del5cAGAAG | XL |