Case
SR1062
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1062
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 20 years
Fundus Photography - Right - 20/400
Exemplar
Fundus Photography - Left - 20/300
Exemplar
Fundus Montage - Right - 20/400
Exemplar
Fundus Montage - Left - 20/300
Exemplar
Goldmann Visual Field - Right - 20/400
Exemplar
Goldmann Visual Field - Left - 20/300
Exemplar
Optical Coherence Tomography - Right - 20/400
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/400
Exemplar
Infrared Fundus Photograph - Left - 20/300
Exemplar
Visit at age: 23 years
Fundus Photography - Right - 20/300
Exemplar
Fundus Photography - Left - 20/250
Exemplar
Fundus Montage - Right - 20/300
Exemplar
Fundus Montage - Left - 20/250
Exemplar
Goldmann Visual Field - Right - 20/300
Exemplar
Goldmann Visual Field - Left - 20/250
Exemplar
Optical Coherence Tomography - Right - 20/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/250
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300
Exemplar
Infrared Fundus Photograph - Left - 20/250
Exemplar
Visit at age: 25 years
Goldmann Visual Field - Right - 20/300 sc
Exemplar
Goldmann Visual Field - Left - 20/500 sc
Exemplar
Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/500 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
Exemplar
Infrared Fundus Photograph - Left - 20/500 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
Allele 1:
Arg838Pro CGC>CCC