SR47

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

SR47

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

Highlighted Images

Age at visit: 36 years
OD OS

Age at visit: 36 years
Age at visit: 38 years
Age at visit: 40 years
Age at visit: 42 years
Age at visit: 43 years
Age at visit: 44 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Cone and Cone Rod Dystrophy GUCA1A Glu155Gly GAG>GGG   AD
Disease:
AD Cone and Cone Rod Dystrophy
Gene:
GUCA1A
Allele 1:
Glu155Gly GAG>GGG
Allele 2:
 
Inheritance:
AD
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