Case
SR136
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR136
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 56 years
Fundus Photography - Right - 20/80 -1 sc
Exemplar
Fundus Photography - Left - 20/40 sc
Exemplar
Fundus Montage - Right - 20/80 -1 sc
Exemplar
Fundus Montage - Left - 20/40 sc
Exemplar
Goldmann Visual Field - Right - 20/80 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/40 sc
Exemplar
Optical Coherence Tomography - Right - 20/80 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/40 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | SNRNP200 | Pro1045Thr CCT>ACT | Pro1045Thr CCT>ACT | AR |
Disease:
Gene:
Allele 1:
Pro1045Thr CCT>ACT
Allele 2:
Pro1045Thr CCT>ACT
Inheritance:
AR