Case
SR467
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR467
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 42 years
Fundus Photography - Right - 20/25
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Fundus Montage - Left - 20/25 -1
Exemplar
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Visit at age: 44 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Visit at age: 44 years (Visit 2)
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
Exemplar
Infrared Fundus Photograph - Left - 20/80
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | FAM161A | Arg523Stop CGA>TGA | Cys501 del1agaT | AR |
Disease:
Gene:
Allele 1:
Arg523Stop CGA>TGA
Allele 2:
Cys501 del1agaT
Inheritance:
AR