SR2292

Leber Congenital Amaurosis (IA2a)

Female

Female

SR2292

Leber Congenital Amaurosis (IA2a)

Female

Female

Highlighted Images

Age at visit: 18 years
OD OS

History

This 18 year old woman was noted to have nystagmus shortly after birth. She has no recollection of any formed vision at any time in her life.

Pedigree

Age at visit: 18 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Leber Congenital Amaurosis NMNAT1 Glu257Lys GAG>AAG Chr1:10034708-10042182del AR
Gene:
Allele 1:
Glu257Lys GAG>AAG
Allele 2:
Chr1:10034708-10042182del
Inheritance:
AR
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