Case
SR703
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR703
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Visit at age: 5 years
Fundus Photography - Right - Hand Motion 7" sc
Exemplar
Fundus Photography - Left - Hand Motion 7" sc
Exemplar
Visit at age: 6 years
Fundus Photography - Right - Hand Motion 1' sc
Exemplar
Fundus Photography - Left - Hand Motion 1' sc
Exemplar
Visit at age: 11 years
Fundus Photography - Right - Hand Motion 1' sc
Exemplar
Fundus Photography - Left - Hand Motion 1' sc
Exemplar
Visit at age: 13 years
Fundus Photography - Right - Hand Motion sc
Exemplar
Fundus Photography - Left - Hand Motion sc
Exemplar
Optical Coherence Tomography - Left - Hand Motion sc
Exemplar
Infrared Fundus Photograph - Left - Hand Motion sc
Exemplar
Visit at age: 16 years
Optical Coherence Tomography - Right - Hand Motion 1' sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion 6" sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1' sc
Exemplar
Infrared Fundus Photograph - Left - Hand Motion 6" sc
Exemplar
Visit at age: 19 years
Optical Coherence Tomography - Right - Hand Motion sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion sc
Exemplar
Infrared Fundus Photograph - Right - Hand Motion sc
Exemplar
Infrared Fundus Photograph - Left - Hand Motion sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | AIPL1 | IVS2-2 A>G | Trp278Stop TGG>TGA | AR |
Disease:
Gene:
Allele 1:
IVS2-2 A>G
Allele 2:
Trp278Stop TGG>TGA
Inheritance:
AR