Case
SR648
Student Mode
AR CSNB, normal fundus (IA2fiii)
Male
Male
Hidden
SR648
Student Mode
AR CSNB, normal fundus (IA2fiii)
Male
Male
Visit at age: 8 years
Goldmann Visual Field - Right - 20/25 +1
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Visit at age: 10 years
Fundus Photography - Right - 20/20 -3
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Goldmann Visual Field - Right - 20/20 -3
Exemplar
Goldmann Visual Field - Left - 20/20 -2
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 20/30 -1
Exemplar
Goldmann Visual Field - Left - 20/30 -1
Exemplar
Visit at age: 16 years
Fundus Photography - Right - 20/25 -2
Exemplar
Fundus Photography - Left - 20/25 -2
Exemplar
Goldmann Visual Field - Right - 20/25 -2
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Visit at age: 18 years
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
Exemplar
Visit at age: 21 years
Goldmann Visual Field - Right - 20/25 -2
Exemplar
Goldmann Visual Field - Left - 20/30 -2
Exemplar
Optical Coherence Tomography - Right - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -2
Exemplar
Infrared Fundus Photograph - Left - 20/30 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR CSNB, normal fundus | TRPM1 | Lys18 del18aAGGTGAGTGAGCTTTGCC | Tyr72Cys TAT>TGT | AR |
Disease:
Gene:
Allele 1:
Lys18 del18aAGGTGAGTGAGCTTTGCC
Allele 2:
Tyr72Cys TAT>TGT
Inheritance:
AR