StoneRounds Disease Atlas SR495
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StoneRounds Disease Atlas SR495

Case

SR495

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Best Disease (IIB)

Male

Male

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SR495

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Student Mode

Best Disease (IIB)

Male

Male

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Age at visit: 68 years
OD OS
20/200 -2 sc
20/50 +2

History

This 68 year old man first experienced loss of some central vision in his left eye at age 56. Vision in his right eye was affected about six years later.

Pedigree

Age at visit: 68 years
ODOS
20/200 -2 sc
20/50 +2
ODOS
20/200 -2 sc OCT Stack
20/50 +2 OCT Stack
ODOS
20/200 -2 sc
20/50 +2
Age at visit: 69 years
ODOS
20/200 -2 OCT Stack
20/50 -1 OCT Stack
ODOS
20/200 -2
20/50 -1
Age at visit: 71 years
ODOS
20/200 -2 OCT Stack
20/40 -2 OCT Stack
ODOS
20/200 -2
20/40 -2
Age at visit: 73 years
ODOS
20/200 OCT Stack
20/80 +1 OCT Stack
ODOS
20/200
20/80 +1
ODOS
20/200
20/80 +1
Age at visit: 75 years
ODOS
20/200 -1 OCT Stack
20/80 -2 OCT Stack
ODOS
20/200 -1
20/80 -2

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Lys30Arg AAG>AGG   AD
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Lys30Arg AAG>AGG
Allele 2:
 
Inheritance:
AD
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