Case
SR318
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR318
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 37 years
Fundus Photography - Right - Hand Motion
Exemplar
Fundus Photography - Left - 10/160 +1
Exemplar
Fundus Montage - Right - Hand Motion
Exemplar
Fundus Montage - Left - 10/160 +1
Exemplar
Goldmann Visual Field - Right - Hand Motion
Exemplar
Goldmann Visual Field - Left - 10/160 +1
Exemplar
Optical Coherence Tomography - Right - Hand Motion
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/160 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion
Exemplar
Infrared Fundus Photograph - Left - 10/160 +1
Exemplar
Visit at age: 39 years
Goldmann Visual Field - Right - Light Perception
Exemplar
Goldmann Visual Field - Left - 5/350 sc
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 5/350 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - 5/350 sc
Exemplar
Visit at age: 41 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 42 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 45 years
Optical Coherence Tomography - Right - Light Perception
Exemplar
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 49 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CERKL | Arg283Stop CGA>TGA | Arg461Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg283Stop CGA>TGA
Allele 2:
Arg461Stop CGA>TGA
Inheritance:
AR