Case
SR80
Student Mode
ECORD (IA2c)
Male
Male
Hidden
SR80
Student Mode
ECORD (IA2c)
Male
Male
Visit at age: 12 years
Fundus Photography - Right - 20/50 -2
Exemplar
Fundus Photography - Left - 20/40 -1
Exemplar
Goldmann Visual Field - Right - 20/50 -2
Exemplar
Goldmann Visual Field - Left - 20/40 -1
Exemplar
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/30 -2
Exemplar
Fundus Photography - Left - 20/50 +2
Exemplar
Goldmann Visual Field - Right - 20/30 -2
Exemplar
Goldmann Visual Field - Left - 20/50 +2
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/63
Exemplar
Goldmann Visual Field - Left - 20/50
Exemplar
Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
Exemplar
Infrared Fundus Photograph - Left - 20/50
Exemplar
Visit at age: 17 years
Fundus Photography - Right - 20/100 -1
Exemplar
Fundus Photography - Left - 20/80
Exemplar
Fundus Montage - Right - 20/100 -1
Exemplar
Fundus Montage - Left - 20/80
Exemplar
Goldmann Visual Field - Right - 20/100 -1
Exemplar
Goldmann Visual Field - Left - 20/80
Exemplar
Optical Coherence Tomography - Right - 20/100 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1
Exemplar
Infrared Fundus Photograph - Left - 20/80
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 20/200 -1
Exemplar
Goldmann Visual Field - Left - 20/160 -1
Exemplar
Optical Coherence Tomography - Right - 20/200 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
ECORD |
CRB1 |
Cys896Stop TGT>TGA |
Thr745Met ACG>ATG |
AR |
Allele 1:
Cys896Stop TGT>TGA
Allele 2:
Thr745Met ACG>ATG