SR80

ECORD (IA2c)

Male

Male

SR80

ECORD (IA2c)

Male

Male

Highlighted Images

Age at visit: 17 years
OD OS

History

A 17-year-old male had poor night vision and constricted visual fields noticed by his parents at age 3. His acuity at that time was also abnormal.

Pedigree

Age at visit: 12 years
Age at visit: 13 years
Age at visit: 15 years
Age at visit: 17 years
Age at visit: 19 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD CRB1 Cys896Stop TGT>TGA Thr745Met ACG>ATG AR
Disease:
Gene:
Allele 1:
Cys896Stop TGT>TGA
Allele 2:
Thr745Met ACG>ATG
Inheritance:
AR
Cite this case