Case
SR1860
Student Mode
Retinitis Pigmentosa with Anemia (IB10)
Male
Male
Hidden
SR1860
Student Mode
Retinitis Pigmentosa with Anemia (IB10)
Male
Male
Visit at age: 18 years
Fundus Photography - Right - 20/40 -1
Exemplar
Fundus Photography - Left - 20/32 -2
Exemplar
Goldmann Visual Field - Right - 20/40 -1
Exemplar
Goldmann Visual Field - Left - 20/32 -2
Exemplar
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/32 -2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32 -2
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 20/32 -2
Exemplar
Goldmann Visual Field - Left - 20/40 -1
Exemplar
Optical Coherence Tomography - Right - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Retinitis Pigmentosa with Anemia | TRNT1 | IVS5-26 T>C | Lys416 ins1tggA | AR |
Disease:
Gene:
Allele 1:
IVS5-26 T>C
Allele 2:
Lys416 ins1tggA
Inheritance:
AR