SR404

ECORD (IA2c)

Male

Male

SR404

ECORD (IA2c)

Male

Male

Highlighted Images

Age at visit: 7 years
OD OS

History

This 7 year old boy has had constricted visual fields in dim light and fear of the dark since 18 months of age.

Pedigree

Age at visit: 5 years
Age at visit: 6 years
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 9 years
Age at visit: 11 years
Age at visit: 15 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD RHO Leu125Arg CTG>CGG   AD
Disease:
Gene:
Allele 1:
Leu125Arg CTG>CGG
Allele 2:
 
Inheritance:
AD
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