Case
SR84
Student Mode
ECORD (IA2c)
Male
Male
Hidden
SR84
Student Mode
ECORD (IA2c)
Male
Male
Visit at age: 5 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Visit at age: 7 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/32 -2
Exemplar
Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32 -2
Exemplar
Visit at age: 9 years (Visit 2)
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/32 -1
Exemplar
Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/25 -2
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Optical Coherence Tomography - Right - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -2
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/32 +2
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Optical Coherence Tomography - Right - 20/32 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +2
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
Exemplar
Visit at age: 17 years
Goldmann Visual Field - Right - 20/32 +1
Exemplar
Goldmann Visual Field - Left - 20/50 +1
Exemplar
Optical Coherence Tomography - Right - 20/32 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +1
Exemplar
Infrared Fundus Photograph - Left - 20/50 +1
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
ECORD |
IQCB1 |
Glu346Stop GAG>TAG |
Arg72Stop CGA>TGA |
AR |
Allele 1:
Glu346Stop GAG>TAG
Allele 2:
Arg72Stop CGA>TGA