Case
SR2786
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR2786
Student Mode
Best Disease (IIB)
Female
Female
History
This 7 year old girl began having difficulty recognizing certain letters 3 months ago. She got her first glasses at age 3 to treat her accommodative esotropia.
Pedigree
| Age at visit: 7 years |
| Age at visit: 13 years |
| Age at visit: 18 years |
| Age at visit: 18 years (Visit 2) |
| Age at visit: 18 years (Visit 3) |
| Age at visit: 18 years (Visit 4) |
| Age at visit: 18 years (Visit 7) |
| Age at visit: 18 years (Visit 9) |
| Age at visit: 19 years |
| Age at visit: 19 years (Visit 3) |
| Age at visit: 19 years (Visit 4) |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Thr2Asn ACC>AAC | AD |