Case
SR2781
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2781
Student Mode
Best Disease (IIB)
Male
Male
History
This 11 year old boy was found to have reduced acuity in his right eye during a school screening. Both of his parents have normal fundus exams. His maternal uncle has been "legally blind" since he was a teenager. His mother's EOG was 2.3 in the right eye and 2.4 in the left eye. His father's EOS was 1.3 in the right eye and 1.2 in the left eye.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Arg218Cys CGT>TGT | AD |