Case
SR2925
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2925
Student Mode
Best Disease (IIB)
Male
Male
History
This 3 year old boy was asymptomatic when an abnormal fundus appearance was noticed on a routine eye exam.
Pedigree
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