Case
SR486
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Hidden
SR486
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Female
Female
Visit at age: 53 years
Fundus Photography - Right - 20/16 -2
Exemplar
Fundus Photography - Left - 20/16 -1
Exemplar
Fundus Montage - Right - 20/16 -2
Exemplar
Fundus Montage - Left - 20/16 -1
Exemplar
Goldmann Visual Field - Right - 20/16 -2
Exemplar
Goldmann Visual Field - Left - 20/16 -1
Exemplar
Optical Coherence Tomography - Right - 20/16 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/16 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/16 -2
Exemplar
Infrared Fundus Photograph - Left - 20/16 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | SNRNP200 | Ser1087Leu TCG>TTG | AD |
Disease:
Gene:
Allele 1:
Ser1087Leu TCG>TTG
Allele 2:
Inheritance:
AD