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StoneRounds Disease Atlas SR708

SR708

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Best Disease (IIB)

Female

Female

SR708

Grid View Download View

Best Disease (IIB)

Female

Female

Highlighted Images

Age at visit: 12 years
OD OS
20/50 sc
20/15 -1 sc

History

This 12 year old female was struck in the eye while tussling with her sibling.

Pedigree

Age at visit: 12 years
Age at visit: 12 years (Visit 2)
Age at visit: 13 years
Age at visit: 18 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 18 years (Visit 2)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 18 years (Visit 3)
Age at visit: 19 years
Age at visit: 19 years (Visit 2)
Age at visit: 20 years
Age at visit: 21 years
Age at visit: 22 years
Age at visit: 22 years (Visit 2)
Age at visit: 23 years
Age at visit: 24 years
Age at visit: 25 years
Age at visit: 26 years
Age at visit: 28 years
Age at visit: 29 years
Age at visit: 29 years (Visit 2)
Age at visit: 31 years
Age at visit: 32 years
Age at visit: 34 years
Age at visit: 35 years
Age at visit: 35 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Asp302Ala GAT>GCT   AD
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Asp302Ala GAT>GCT
Allele 2:
 
Inheritance:
AD
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