SR2921

SECORD (IA2b)

Female

Female

SR2921

SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 9 years
OD OS

History

This 9 year old girl had nystagmus noticed shortly after birth. Her acuity and night vision have been stably subnormal her entire life. She had a non-recordable ERG at age 9 months.

Pedigree

Age at visit: 7 years
Age at visit: 9 years
Age at visit: 10 years
Age at visit: 14 years
Age at visit: 16 years
Age at visit: 19 years
Age at visit: 36 years
Age at visit: 37 years
Age at visit: 37 years (Visit 2)
Age at visit: 37 years (Visit 3)
Age at visit: 38 years
Age at visit: 38 years (Visit 2)
Age at visit: 38 years (Visit 3)
Age at visit: 39 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD RPE65 Arg44Gln CGA>CAA Arg91Trp CGG>TGG AR
Disease:
Gene:
Allele 1:
Arg44Gln CGA>CAA
Allele 2:
Arg91Trp CGG>TGG
Inheritance:
AR
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