SR2341

Best Disease (IIB)

Male

Male

SR2341

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 11 years
OD OS

History

This eleven year old male failed a routine school eye screening. He has no visual symptoms of any kind.

Pedigree

Age at visit: 11 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Arg141His CGC>CAC Pro152Ala CCC>GCC AR
Disease:
Gene:
Allele 1:
Arg141His CGC>CAC
Allele 2:
Pro152Ala CCC>GCC
Inheritance:
AR
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