Case
SR1846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 13 years
Fundus Photography - Right - 20/32 -1
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Fundus Montage - Right - 20/32 -1
Exemplar
Fundus Montage - Left - 20/25 -1
Exemplar
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/32 -1
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 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Visit at age: 14 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 | REEP6 | Gly131Arg GGG>AGG | Deletion of entire gene | AR |
Disease:
Gene:
Allele 1:
Gly131Arg GGG>AGG
Allele 2:
Deletion of entire gene
Inheritance:
AR