Case
SR2341
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2341
Student Mode
Best Disease (IIB)
Male
Male
History
This eleven year old male failed a routine school eye screening. He has no visual symptoms of any kind.
Pedigree
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