Case
SR389
Student Mode
Retinitis Pigmentosa with Anemia (IB10)
Male
Male
Hidden
SR389
Student Mode
Retinitis Pigmentosa with Anemia (IB10)
Male
Male
Visit at age: 19 years
Goldmann Visual Field - Right - 20/20 -2
Exemplar
Goldmann Visual Field - Left - 20/20 +2
Exemplar
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
Exemplar
Infrared Fundus Photograph - Left - 20/20 +2
Exemplar
Visit at age: 19 years (Visit 2)
Fundus Photography - Right - 20/25 +2
Exemplar
Fundus Photography - Left - 20/25 +2
Exemplar
Fundus Montage - Right - 20/25 +2
Exemplar
Fundus Montage - Left - 20/25 +2
Exemplar
Goldmann Visual Field - Right - 20/25 +2
Exemplar
Goldmann Visual Field - Left - 20/25 +2
Exemplar
Blood Smear - N/A
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Retinitis Pigmentosa with Anemia | TRNT1 | Thr42 del3acAGA | Lys416 del1tggA | AR |
Disease:
Gene:
Allele 1:
Thr42 del3acAGA
Allele 2:
Lys416 del1tggA
Inheritance:
AR