Case
SR1207
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Hidden
SR1207
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Visit at age: 27 years
Fundus Photography - Right - 20/50 -2
Exemplar
Fundus Photography - Left - 10/300 sc
Exemplar
Fundus Montage - Right - 20/50 -2
Exemplar
Fundus Montage - Left - 10/300 sc
Exemplar
Goldmann Visual Field - Right - 20/50 -2
Exemplar
Goldmann Visual Field - Left - 10/300 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
Exemplar
Infrared Fundus Photograph - Left - 10/300 sc
Exemplar
Blue Autofluorescence - Right - 20/50 -2
Exemplar
Blue Autofluorescence - Left - 10/300 sc
Exemplar
Visit at age: 28 years
Goldmann Visual Field - Right - 20/125
Exemplar
Goldmann Visual Field - Left - 10/300 sc
Exemplar
Optical Coherence Tomography - Right - 20/125
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125
Exemplar
Infrared Fundus Photograph - Left - 10/300 sc
Exemplar
Visit at age: 29 years
Fundus Photography - Right - 20/125 -1
Exemplar
Fundus Photography - Left - 10/350 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/350 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 10/350 sc
Exemplar
Visit at age: 30 years
Fundus Photography - Right - 20/100
Exemplar
Fundus Photography - Left - 10/300 sc
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 10/300 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
Allele 1:
Arg1059 del2aacAG
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis