SR1796

SECORD (IA2b)

Female

Female

SR1796

SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 17 years
OD OS

History

This 17 year old female feels that the vision in her right eye has worsened since her cataract surgery 8 weeks ago.

Pedigree

Age at visit: 5 years
Age at visit: 7 years
Age at visit: 9 years
Age at visit: 11 years
Age at visit: 17 years
Age at visit: 18 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD CRB1 Cys195Phe TGC>TTC Gly750Asp GGC>GAC AR
Disease:
Gene:
Allele 1:
Cys195Phe TGC>TTC
Allele 2:
Gly750Asp GGC>GAC
Inheritance:
AR
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