Case
SR263
Student Mode
SECORD (IA2b)
Male
Male
Hidden
SR263
Student Mode
SECORD (IA2b)
Male
Male
Visit at age: 12 years
Fundus Photography - Right - 20/200 +1
Exemplar
Fundus Photography - Left - 20/100 -2
Exemplar
Fundus Montage - Right - 20/200 +1
Exemplar
Fundus Montage - Left - 20/100 -2
Exemplar
Goldmann Visual Field - Right - 20/200 +1
Exemplar
Goldmann Visual Field - Left - 20/100 -2
Exemplar
Optical Coherence Tomography - Right - 20/200 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +1
Exemplar
Infrared Fundus Photograph - Left - 20/100 -2
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/300
Exemplar
Goldmann Visual Field - Left - 20/80 -1
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 10/200
Exemplar
Goldmann Visual Field - Left - 10/63 -1
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 10/300
Exemplar
Fundus Photography - Left - 20/80 -1
Exemplar
Fundus Montage - Right - 10/300
Exemplar
Fundus Montage - Left - 20/80 -1
Exemplar
Goldmann Visual Field - Right - 10/300
Exemplar
Goldmann Visual Field - Left - 20/80 -1
Exemplar
Optical Coherence Tomography - Right - 10/300
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/300
Exemplar
Infrared Fundus Photograph - Left - 20/80 -1
Exemplar
Visit at age: 22 years
Fundus Photography - Right - 10/600
Exemplar
Fundus Photography - Left - 20/100 -2
Exemplar
Fundus Montage - Right - 10/600
Exemplar
Fundus Montage - Left - 20/100 -2
Exemplar
Goldmann Visual Field - Right - 10/600
Exemplar
Goldmann Visual Field - Left - 20/100 -2
Exemplar
Optical Coherence Tomography - Right - 10/600
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/600
Exemplar
Infrared Fundus Photograph - Left - 20/100 -2
Exemplar
Visit at age: 25 years
Optical Coherence Tomography - Right - 20/1000 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/500
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/1000 sc
Exemplar
Infrared Fundus Photograph - Left - 20/500
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
SECORD |
CRB1 |
Cys948Tyr (T)GT>(T)AT |
Tyr702Cys TAT>TGT |
AR |
Allele 1:
Cys948Tyr (T)GT>(T)AT
Allele 2:
Tyr702Cys TAT>TGT