SR443

LCHAD Associated Retinal Dystrophy (IB)

Female

Female

SR443

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

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
Gene:
Allele 1:
Glu510Gln GAG>CAG
Allele 2:
Gln378Stop CAA>TAA
Inheritance:
AR
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