Case
SR364
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR364
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 26 years
Fundus Photography - Right - 20/32 sc
Exemplar
Fundus Photography - Left - 20/32 +1 sc
Exemplar
Fundus Montage - Right - 20/32 sc
Exemplar
Fundus Montage - Left - 20/32 +1 sc
Exemplar
Goldmann Visual Field - Right - 20/32 sc
Exemplar
Goldmann Visual Field - Left - 20/32 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/32 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 sc
Exemplar
Infrared Fundus Photograph - Left - 20/32 +1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | PDE6B | Gly137Arg GGG>AGG | Met714Leu ATG>TTG | AR |
Disease:
Gene:
Allele 1:
Gly137Arg GGG>AGG
Allele 2:
Met714Leu ATG>TTG
Inheritance:
AR