Case
SR2030
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR2030
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Visit at age: 21 years
Goldmann Visual Field - Right - 20/40 sc
Exemplar
Goldmann Visual Field - Left - 20/40 +3 sc
Exemplar
Visit at age: 22 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Visit at age: 59 years
Fundus Photography - Right - 1/200 sc
Exemplar
Fundus Photography - Left - 20/300 sc
Exemplar
Optical Coherence Tomography - Right - 1/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 1/200 sc
Exemplar
Infrared Fundus Photograph - Left - 20/300 sc
Exemplar
Green Autofluorescence - Right - 1/200 sc
Exemplar
Green Autofluorescence - Left - 20/300 sc
Exemplar
Visit at age: 61 years
Optical Coherence Tomography - Right - No Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - No Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | RHO | Pro347Ala CCG>GCG | AD |