Case
SR1101
Student Mode
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
Hidden
SR1101
Student Mode
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
Visit at age: 25 years
Fundus Photography - Right - 20/63 -1
Exemplar
Fundus Photography - Left - 20/50 -2
Exemplar
Fundus Montage - Right - 20/63 -1
Exemplar
Fundus Montage - Left - 20/50 -2
Exemplar
Goldmann Visual Field - Right - 20/63 -1
Exemplar
Goldmann Visual Field - Left - 20/50 -2
Exemplar
Optical Coherence Tomography - Right - 20/63 -1
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -1
Exemplar
Infrared Fundus Photograph - Left - 20/50 -2
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 | Trp273Stop TGG>TGA | XL |
Gene:
Allele 1:
Trp273Stop TGG>TGA
Allele 2:
Inheritance:
XL