Case
SR1740
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1740
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 17 years
Goldmann Visual Field - Right - 20/30
Exemplar
Goldmann Visual Field - Left - 20/30 -2
Exemplar
Visit at age: 32 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/25
Exemplar
Fundus Montage - Right - 20/40
Exemplar
Fundus Montage - Left - 20/25
Exemplar
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Blue Autofluorescence - Right - 20/40
Exemplar
Blue Autofluorescence - Left - 20/25
Exemplar
Visit at age: 34 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Case Level Images
Diagnosis & molecular findings
Allele 1:
Asp148Glu GAT>GAA