SR1812

Best Disease (IIB)

Male

Male

SR1812

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 32 years
OD OS

History

This 32 year old man was asymptomatic when an abnormal fundus appearance was noticed on a routine eye exam.

Pedigree

Age at visit: 29 years
Age at visit: 29 years (Visit 2)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 32 years
Age at visit: 38 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Ile295Leu ATC>CTC   AD
Disease:
Gene:
Allele 1:
Ile295Leu ATC>CTC
Allele 2:
 
Inheritance:
AD
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