Case
SR353
Student Mode
Pattern Dystrophy (IIC)
Female
Female
Hidden
SR353
Student Mode
Pattern Dystrophy (IIC)
Female
Female
Visit at age: 44 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Optical Coherence Tomography - Right - 20/20 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 sc
Exemplar
Fluorescein Angiography - Right - 20/20 sc
Exemplar
Fluorescein Angiography - Left - 20/20 sc
Exemplar
Visit at age: 44 years (Visit 2)
Fundus Photography - Right - 20/20 -2
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Goldmann Visual Field - Right - 20/20 -2
Exemplar
Goldmann Visual Field - Left - 20/20 -2
Exemplar
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Visit at age: 54 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 10/120 sc
Exemplar
Fundus Montage - Right - 20/20
Exemplar
Fundus Montage - Left - 10/120 sc
Exemplar
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 10/120 sc
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/120 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 10/120 sc
Exemplar
Blue Autofluorescence - Right - 20/20
Exemplar
Blue Autofluorescence - Left - 10/120 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
Pattern Dystrophy |
PRPH2 |
Arg172Gln CGG>CAG |
|
AD |
Allele 1:
Arg172Gln CGG>CAG