This 4 year old girl was evaluated for esotropia at age 3 and an abnormal fundus appearance was noted at that visit.
Age at visit: 4 years (Visit 2) |
Age at visit: 6 years |
Age at visit: 7 years |
Age at visit: 8 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Best Disease | BEST1 | Gly34Gly GGC>GGT | Ile295Leu ATC>CTC | AR |