Case
SR671
Student Mode
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
Hidden
SR671
Student Mode
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
Visit at age: 8 years
Fundus Photography - Right - 20/30 +1
Exemplar
Fundus Photography - Left - 20/30
Exemplar
Visit at age: 11 years
ERG - Right - 20/30 +2
Exemplar
ERG - Left - 20/25
Exemplar
Visit at age: 17 years
Fundus Photography - Right - 20/30 -2
Exemplar
Fundus Photography - Left - 20/25 -2
Exemplar
Goldmann Visual Field - Right - 20/30 -2
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 20/30 -1
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Visit at age: 25 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/30
Exemplar
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/30
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/30
Exemplar
Visit at age: 28 years
Fundus Photography - Right - 20/32 -1
Exemplar
Fundus Photography - Left - 20/32
Exemplar
Fundus Montage - Right - 20/32 -1
Exemplar
Fundus Montage - Left - 20/32
Exemplar
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Congenital Stationary Night Blindness | NYX | Leu307Arg CTG>CGG | XL |
Gene:
Allele 1:
Leu307Arg CTG>CGG
Allele 2:
Inheritance:
XL