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StoneRounds Disease Atlas SR2416

SR2416

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Best Disease (IIB)

Male

Male

SR2416

Grid View Download View

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 12 years
OD OS
20/25 +2
20/25 -1

History

This 12 year old male has slightly reduced acuity OU.

Pedigree

Age at visit: 12 years
Age at visit: 23 years
Age at visit: 24 years
Age at visit: 24 years (Visit 2)
Age at visit: 24 years (Visit 3)
Age at visit: 25 years
Age at visit: 28 years
Age at visit: 29 years
Age at visit: 31 years
Age at visit: 45 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
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