Case
SR2292
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2292
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Visit at age: 18 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
Optical Coherence Tomography - Right - Light Perception
Exemplar
Optical Coherence Tomography - Left - Light Perception
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Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - 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 | Glu257Lys GAG>AAG | Chr1:10034708-10042182del | AR |
Disease:
Gene:
Allele 1:
Glu257Lys GAG>AAG
Allele 2:
Chr1:10034708-10042182del
Inheritance:
AR