Case
SR218
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Hidden
SR218
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Visit at age: 39 years
Fundus Photography - Right - 20/50 +2 sc
Exemplar
Fundus Photography - Left - 20/60 +1 sc
Exemplar
Visit at age: 40 years
Goldmann Visual Field - Right - 20/80 sc
Exemplar
Goldmann Visual Field - Left - 20/100 sc
Exemplar
Visit at age: 41 years
Goldmann Visual Field - Right - 20/60 sc
Exemplar
Goldmann Visual Field - Left - 20/100 sc
Exemplar
Optical Coherence Tomography - Right - 20/60 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/100 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/60 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 sc
Exemplar
Visit at age: 43 years
Goldmann Visual Field - Right - 20/63 sc
Exemplar
Goldmann Visual Field - Left - 20/125 -2 sc
Exemplar
Visit at age: 44 years
Goldmann Visual Field - Right - 20/160 +2 sc
Exemplar
Goldmann Visual Field - Left - 10/160 -1 sc
Exemplar
Visit at age: 45 years
Goldmann Visual Field - Right - 10/125 +1 sc
Exemplar
Goldmann Visual Field - Left - 10/160 sc
Exemplar
Optical Coherence Tomography - Right - 10/125 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/160 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 10/160 sc
Exemplar
Visit at age: 46 years
Goldmann Visual Field - Right - 10/100 -2 sc
Exemplar
Goldmann Visual Field - Left - 10/125 -2 sc
Exemplar
Optical Coherence Tomography - Right - 10/100 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 -2 sc
Exemplar
Visit at age: 47 years
Goldmann Visual Field - Right - 10/120 sc
Exemplar
Goldmann Visual Field - Left - 10/120 sc
Exemplar
Optical Coherence Tomography - Right - 10/120 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/120 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/120 sc
Exemplar
Infrared Fundus Photograph - Left - 10/120 sc
Exemplar
Visit at age: 48 years
Goldmann Visual Field - Right - 10/120 +1 sc
Exemplar
Goldmann Visual Field - Left - 10/160 -1 sc
Exemplar
Optical Coherence Tomography - Right - 10/120 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/160 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/120 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 10/160 -1 sc
Exemplar
Visit at age: 49 years
Goldmann Visual Field - Right - 10/180 sc
Exemplar
Goldmann Visual Field - Left - 10/225 sc
Exemplar
Optical Coherence Tomography - Right - 10/180 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/225 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/180 sc
Exemplar
Infrared Fundus Photograph - Left - 10/225 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Cone and Cone Rod Dystrophy | RPGR | Glu1031 del2gaGG | XL |
Disease:
Gene:
Allele 1:
Glu1031 del2gaGG
Allele 2:
Inheritance:
XL