Case
SR2739
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Hidden
SR2739
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Visit at age: 38 years
Fundus Photography - Right - 20/16 -1 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
Exemplar
Fundus Montage - Right - 20/16 -1 sc
Exemplar
Fundus Montage - Left - 20/20 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/16 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/20 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/16 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/16 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1 sc
Exemplar
Blue Autofluorescence - Right - 20/16 -1 sc
Exemplar
Blue Autofluorescence - Left - 20/20 -1 sc
Exemplar
Visit at age: 39 years
Optical Coherence Tomography - Right - 20/16 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/16 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
Pattern Dystrophy |
CTNNA1 |
Thr325Arg ACG>AGG |
|
AD |
Allele 1:
Thr325Arg ACG>AGG