Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR625

SR625

Grid View Download View

Best Disease (IIB)

Male

Male

SR625

Grid View Download View

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 47 years
OD OS
20/300 sc
20/40 sc

History

This 47 year old man first noticed some reduction in his visual acuity when he was 8 or 9 years of age.

Pedigree

Age at visit: 42 years
Age at visit: 47 years
Age at visit: 49 years
Age at visit: 50 years
Age at visit: 51 years
Age at visit: 54 years
Age at visit: 57 years
Age at visit: 58 years
Age at visit: 61 years
Age at visit: 64 years
Age at visit: 64 years (Visit 2)
Age at visit: 65 years
Age at visit: 68 years
Age at visit: 69 years
Age at visit: 70 years
Age at visit: 71 years
Age at visit: 71 years (Visit 2)
Age at visit: 72 years
Age at visit: 72 years (Visit 2)
Age at visit: 73 years
Age at visit: 73 years (Visit 2)
Age at visit: 74 years
Age at visit: 74 years (Visit 2)
Age at visit: 74 years (Visit 3)
Age at visit: 74 years (Visit 4)
Age at visit: 75 years
Age at visit: 76 years
Age at visit: 77 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Tyr227Asn TAC>AAC   AD
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Tyr227Asn TAC>AAC
Allele 2:
 
Inheritance:
AD
Cite this case