SR2325

Leber Congenital Amaurosis (IA2a)

Female

Female

SR2325

Leber Congenital Amaurosis (IA2a)

Female

Female

Highlighted Images

Age at visit: 10 years
OD OS

History

This 10 year old female has had no light perception in either eye since birth. She is otherwise healthy.

Pedigree

Age at visit: 5 years
Age at visit: 10 years
Age at visit: 13 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Leber Congenital Amaurosis CEP290 Lys127 del4aaAGAT IVS26+1655 A>G AR
Gene:
Allele 1:
Lys127 del4aaAGAT
Allele 2:
IVS26+1655 A>G
Inheritance:
AR
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