SR263

SECORD (IA2b)

Male

Male

SR263

SECORD (IA2b)

Male

Male

Highlighted Images

Age at visit: 18 years
OD OS

History

This 18 year old man had nystagmus and hyperopic astigmatism in his 1st year of life. His visual acuity and night vision have always been poor.

Pedigree

Age at visit: 12 years
Age at visit: 13 years
Age at visit: 14 years
Age at visit: 18 years
Age at visit: 22 years
Age at visit: 25 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD CRB1 Cys948Tyr (T)GT>(T)AT Tyr702Cys TAT>TGT AR
Disease:
Gene:
Allele 1:
Cys948Tyr (T)GT>(T)AT
Allele 2:
Tyr702Cys TAT>TGT
Inheritance:
AR
Cite this case