Case
SR846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 79 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/25 -2
Exemplar
Fundus Montage - Right - 20/25 -1
Exemplar
Fundus Montage - Left - 20/25 -2
Exemplar
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
Exemplar
Visit at age: 81 years
Fundus Photography - Right - 20/32 +2
Exemplar
Fundus Photography - Left - 20/25 +1
Exemplar
Fundus Montage - Right - 20/32 +2
Exemplar
Fundus Montage - Left - 20/25 +1
Exemplar
Goldmann Visual Field - Right - 20/32 +2
Exemplar
Goldmann Visual Field - Left - 20/25 +1
Exemplar
Optical Coherence Tomography - Right - 20/32 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +2
Exemplar
Infrared Fundus Photograph - Left - 20/25 +1
Exemplar
Visit at age: 83 years
Goldmann Visual Field - Right - 20/25 -2
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/25 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -2
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | MAK | Lys429 insAlu_353bp | Lys429 insAlu_353bp | AR |
Disease:
Gene:
Allele 1:
Lys429 insAlu_353bp
Allele 2:
Lys429 insAlu_353bp
Inheritance:
AR