Case
SR443
Student Mode
LCHAD Associated Retinal Dystrophy (IB)
Female
Female
Hidden
SR443
Student Mode
LCHAD Associated Retinal Dystrophy (IB)
Female
Female
Visit at age: 20 years
Fundus Photography - Right - 20/25
Exemplar
Fundus Photography - Left - 20/32
Exemplar
Fundus Montage - Right - 20/25
Exemplar
Fundus Montage - Left - 20/32
Exemplar
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| LCHAD Associated Retinal Dystrophy | HADHA | Glu510Gln GAG>CAG | Gln378Stop CAA>TAA | AR |
Disease:
Gene:
Allele 1:
Glu510Gln GAG>CAG
Allele 2:
Gln378Stop CAA>TAA
Inheritance:
AR