Case
SR2197
Student Mode
Late Onset Retinal Dystrophy (IIIA3)
Female
Female
Hidden
SR2197
Student Mode
Late Onset Retinal Dystrophy (IIIA3)
Female
Female
Visit at age: 61 years
Fundus Photography - Right - 20/16
Exemplar
Fundus Photography - Left - 20/20
Exemplar
Goldmann Visual Field - Right - 20/16
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/16
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/16
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Late Onset Retinal Dystrophy | C1QTNF5 | Ser163Arg AGC>AGA | AD |
Disease:
Gene:
Allele 1:
Ser163Arg AGC>AGA
Allele 2:
Inheritance:
AD