Case
SR449
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR449
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 55 years
Fundus Photography - Right - 20/1000 sc
Exemplar
Fundus Photography - Left - 20/600 sc
Exemplar
Fundus Montage - Right - 20/1000 sc
Exemplar
Fundus Montage - Left - 20/600 sc
Exemplar
Goldmann Visual Field - Right - 20/1000 sc
Exemplar
Goldmann Visual Field - Left - 20/600 sc
Exemplar
Optical Coherence Tomography - Right - 20/1000 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/600 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/1000 sc
Exemplar
Infrared Fundus Photograph - Left - 20/600 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CRB1 | Leu479Pro CTG>CCG | Gly770Ser GGC>AGC | AR |
Disease:
Gene:
Allele 1:
Leu479Pro CTG>CCG
Allele 2:
Gly770Ser GGC>AGC
Inheritance:
AR