Case
SR518
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR518
Student Mode
Best Disease (IIB)
Female
Female
History
This 4 year old girl was evaluated for esotropia at age 3 and an abnormal fundus appearance was noted at that visit.
Pedigree
| Age at visit: 4 years (Visit 2) |
| Age at visit: 6 years |
| Age at visit: 7 years |
| Age at visit: 8 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Gly34Gly GGC>GGT | Ile295Leu ATC>CTC | AR |
Disease:
Gene:
Allele 1:
Gly34Gly GGC>GGT
Allele 2:
Ile295Leu ATC>CTC
Inheritance:
AR