SR170

ECORD (IA2c)

Male

Male

SR170

ECORD (IA2c)

Male

Male

Highlighted Images

Age at visit: 7 years
OD OS

History

This 7 year old boy was found to have slightly reduced acuity during a routine eye exam six months ago. He feels that his vision is not the same as his peers in dim light.

Pedigree

Age at visit: 5 years
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 9 years
Age at visit: 11 years
Age at visit: 12 years
Age at visit: 13 years
Age at visit: 14 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 RPGR Leu174 del1ttA   XL
Disease:
Gene:
Allele 1:
Leu174 del1ttA
Allele 2:
 
Inheritance:
XL
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