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StoneRounds Disease Atlas SR2015

SR2015

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Best Disease (IIB)

Female

Female

SR2015

Grid View Download View

Best Disease (IIB)

Female

Female

Highlighted Images

Age at visit: 62 years
OD OS
20/30 +1*
20/25 -1*

History

This 62 year old woman had slightly subnormal acuity and mild fundus abnormalities discovered on a routine eye exam.

Pedigree

Age at visit: 37 years
Age at visit: 62 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 62 years (Visit 2)
Age at visit: 71 years
Age at visit: 74 years
Age at visit: 76 years
Age at visit: 77 years
Age at visit: 78 years
Age at visit: 82 years
Age at visit: 83 years
Age at visit: 83 years (Visit 2)
Age at visit: 84 years
Age at visit: 85+ (Visit 1)
Age at visit: 85+ (Visit 2)
Age at visit: 85+ (Visit 3)

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