SR518

Best Disease (IIB)

Female

Female

SR518

Best Disease (IIB)

Female

Female

Highlighted Images

Age at visit: 3 years
OD OS

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: 3 years
Age at visit: 4 years
Age at visit: 4 years (Visit 2)
Age at visit: 5 years
Age at visit: 6 years
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 13 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
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