SR201

SECORD (IA2b)

Female

Female

SR201

SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 57 years
OD OS

History

This 57 year old woman had nystagmus noticed in the 1st year of life. She has a non-recordable electroretinogram. In addition, she has always had poor vision in dim light and very constricted visual fields.

Pedigree

Age at visit: 57 years
Age at visit: 59 years
Age at visit: 60 years
Age at visit: 60 years (Visit 2)
Age at visit: 60 years (Visit 3)
Age at visit: 60 years (Visit 4)
Age at visit: 61 years
Age at visit: 61 years (Visit 2)
Age at visit: 62 years
Age at visit: 62 years (Visit 2)
Age at visit: 63 years
Age at visit: 63 years (Visit 2)
Age at visit: 64 years
Age at visit: 65 years
Age at visit: 65 years (Visit 2)
Age at visit: 66 years
Age at visit: 66 years (Visit 2)
Age at visit: 67 years
Age at visit: 68 years
Age at visit: 69 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD CEP290 IVS26+1655 A>G Lys1575Stop AAG>TAG AR
Disease:
Gene:
Allele 1:
IVS26+1655 A>G
Allele 2:
Lys1575Stop AAG>TAG
Inheritance:
AR
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