Case
SR18
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR18
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 9 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 20/25
Exemplar
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Visit at age: 10 years
Goldmann Visual Field - Right - 20/20 -1
Exemplar
Goldmann Visual Field - Left - 20/20 -2
Exemplar
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | PDE6B | Gln298Stop CAG>TAG | IVS17+5 G>A | AR |
Disease:
Gene:
Allele 1:
Gln298Stop CAG>TAG
Allele 2:
IVS17+5 G>A
Inheritance:
AR