Case
SR206
Student Mode
Leber Congenital Amaurosis (IA2a)
Male
Male
Hidden
SR206
Student Mode
Leber Congenital Amaurosis (IA2a)
Male
Male
Visit at age: 15 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Fundus Montage - Right - Light Perception
Exemplar
Fundus Montage - Left - Light Perception
Exemplar
Visit at age: 20 years
Optical Coherence Tomography - Right - Hand Motion sc
Exemplar
Optical Coherence Tomography - Left - Light Perception
Exemplar
Infrared Fundus Photograph - Right - Hand Motion sc
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 22 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 24 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 27 years
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Left - Light Perception
Exemplar
B-Scan Ultrasonography - Right - Light Perception
Exemplar
B-Scan Ultrasonography - Left - Light Perception
Exemplar
Visit at age: 30 years
Optical Coherence Tomography - Left - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
B-Scan Ultrasonography - Right - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | NMNAT1 | Met35Val ATG>GTG | Trp169Stop TGG>TGA | AR |
Disease:
Gene:
Allele 1:
Met35Val ATG>GTG
Allele 2:
Trp169Stop TGG>TGA
Inheritance:
AR