SR2282

ECORD (IA2c)

Male

Male

SR2282

ECORD (IA2c)

Male

Male

Highlighted Images

Age at visit: 17 years
OD OS

History

This 17 year old man first came to medical attention in preschool when he failed a screening vision test. His acuity was not normal and he also had difficulty seeing in dim light.

Pedigree

Age at visit: 17 years
Age at visit: 17 years (Visit 2)
Age at visit: 18 years
Age at visit: 20 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD CRB1 Gly770Ser GGC>AGC Cys896Stop TGT>TGA AR
Disease:
Gene:
Allele 1:
Gly770Ser GGC>AGC
Allele 2:
Cys896Stop TGT>TGA
Inheritance:
AR
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