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StoneRounds Disease Atlas SR2786

SR2786

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Best Disease (IIB)

Female

Female

SR2786

Grid View Download View

Best Disease (IIB)

Female

Female

Highlighted Images

Age at visit: 7 years
OD OS
20/50
20/40 +1

History

This 7 year old girl began having difficulty recognizing certain letters 3 months ago. She got her first glasses at age 3 to treat her accommodative esotropia.

Pedigree

Age at visit: 7 years
Age at visit: 10 years
Age at visit: 13 years
Age at visit: 18 years
Age at visit: 18 years (Visit 2)
Age at visit: 18 years (Visit 3)
Age at visit: 18 years (Visit 4)
Age at visit: 18 years (Visit 5)
Age at visit: 18 years (Visit 6)
Age at visit: 18 years (Visit 7)
Age at visit: 18 years (Visit 8)
Age at visit: 18 years (Visit 9)
Age at visit: 19 years
Age at visit: 19 years (Visit 2)
Age at visit: 19 years (Visit 3)
Age at visit: 19 years (Visit 4)
Age at visit: 19 years (Visit 5)
Age at visit: 19 years (Visit 6)
Age at visit: 19 years (Visit 7)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Thr2Asn ACC>AAC   AD
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Thr2Asn ACC>AAC
Allele 2:
 
Inheritance:
AD
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