Case
SR688
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Hidden
SR688
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Visit at age: 24 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/20 sc
Exemplar
Visit at age: 28 years
Fundus Photography - Right - 20/20 -1 sc
Exemplar
Fundus Photography - Left - 20/25 sc
Exemplar
Goldmann Visual Field - Right - 20/20 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/25 sc
Exemplar
Visit at age: 31 years
Goldmann Visual Field - Right - 20/30 sc
Exemplar
Goldmann Visual Field - Left - 20/40 sc
Exemplar
Visit at age: 33 years
Goldmann Visual Field - Right - 20/25 -2
Exemplar
Goldmann Visual Field - Left - 20/30 -2
Exemplar
Visit at age: 35 years
Goldmann Visual Field - Right - 20/30 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/40 -1 sc
Exemplar
Visit at age: 40 years
Fundus Photography - Right - 20/50 +1 sc
Exemplar
Fundus Photography - Left - 20/60 +1 sc
Exemplar
Goldmann Visual Field - Right - 20/50 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/60 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/60 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/60 +1 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 del1gA | XL |
Disease:
Gene:
Allele 1:
Glu1031 del1gA
Allele 2:
Inheritance:
XL