Case
SR43
Student Mode
SECORD (IA2b)
Female
Female
Hidden
SR43
Student Mode
SECORD (IA2b)
Female
Female
Visit at age: 21 months
Fundus Photography - Right - 20/150 +1
Exemplar
Fundus Photography - Left - 20/250
Exemplar
Visit at age: 2 years
Fundus Photography - Right - 20/125 sc
Exemplar
Fundus Photography - Left - 20/125 sc
Exemplar
Fundus Montage - Right - 20/125 sc
Exemplar
Fundus Montage - Left - 20/125 sc
Exemplar
Visit at age: 5 years
Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/200
Exemplar
Infrared Fundus Photograph - Left - 20/200
Exemplar
Visit at age: 6 years
Optical Coherence Tomography - Right - 10/100 -1 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/125 -1 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/100 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 -1 sc
Exemplar
Visit at age: 7 years
Goldmann Visual Field - Right - 10/100 -1 sc
Exemplar
Goldmann Visual Field - Left - 10/125 -1 sc
Exemplar
Optical Coherence Tomography - Right - 10/100 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 -1 sc
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 10/100 -2 sc
Exemplar
Fundus Photography - Left - 10/125 -1 sc
Exemplar
Goldmann Visual Field - Right - 10/100 -2 sc
Exemplar
Goldmann Visual Field - Left - 10/125 -1 sc
Exemplar
Optical Coherence Tomography - Right - 10/100 -2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 -1 sc
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 10/100 +2 sc
Exemplar
Goldmann Visual Field - Left - 10/100 -2 sc
Exemplar
Optical Coherence Tomography - Right - 10/100 +2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/100 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/100 -2 sc
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 10/100 -1
Exemplar
Goldmann Visual Field - Left - 10/200
Exemplar
Optical Coherence Tomography - Right - 10/100 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 -1
Exemplar
Infrared Fundus Photograph - Left - 10/200
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 5/160
Exemplar
Goldmann Visual Field - Left - 5/200
Exemplar
Optical Coherence Tomography - Right - 5/160
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/160
Exemplar
Infrared Fundus Photograph - Left - 5/200
Exemplar
Blue Autofluorescence - Right - 5/160
Exemplar
Blue Autofluorescence - Left - 5/200
Exemplar
Visit at age: 16 years
Fundus Photography - Right - 5/250
Exemplar
Fundus Photography - Left - 5/500
Exemplar
Goldmann Visual Field - Right - 5/250
Exemplar
Goldmann Visual Field - Left - 5/500
Exemplar
Optical Coherence Tomography - Right - 5/250
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/500
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 5/250
Exemplar
Infrared Fundus Photograph - Left - 5/500
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
SECORD |
RDH12 |
Ala269 del5tgcGCCCT |
Ala269 del5tgcGCCCT |
AR |
Allele 1:
Ala269 del5tgcGCCCT
Allele 2:
Ala269 del5tgcGCCCT
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis