Case
SR1584
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1584
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 26 years
Fundus Photography - Right - 20/100 -2
Exemplar
Fundus Photography - Left - 20/40 -2
Exemplar
Goldmann Visual Field - Right - 20/100 -2
Exemplar
Goldmann Visual Field - Left - 20/40 -2
Exemplar
Optical Coherence Tomography - Right - 20/100 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -2
Exemplar
Visit at age: 27 years
Goldmann Visual Field - Right - 20/200 -3
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/200 -3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -3
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Visit at age: 30 years
Fundus Photography - Right - 20/200 -3
Exemplar
Fundus Photography - Left - 20/63
Exemplar
Fundus Montage - Right - 20/200 -3
Exemplar
Fundus Montage - Left - 20/63
Exemplar
Goldmann Visual Field - Right - 20/200 -3
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/200 -3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -3
Exemplar
Infrared Fundus Photograph - Left - 20/63
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