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StoneRounds Disease Atlas SR29

SR29

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Malattia Leventinese (IIJ)

Female

Female

SR29

Grid View Download View

Malattia Leventinese (IIJ)

Female

Female

Highlighted Images

Age at visit: 43 years
OD OS
20/25 +2
20/30

History

This 43 year old woman has experienced a gradual reduction in her central vision for the past 3 years.

Pedigree

Age at visit: 19 years
Age at visit: 35 years
Age at visit: 43 years
Age at visit: 47 years
Age at visit: 58 years
Age at visit: 58 years (Visit 2)
Age at visit: 58 years (Visit 3)
Age at visit: 59 years
Age at visit: 60 years
Age at visit: 60 years (Visit 2)
Age at visit: 60 years (Visit 3)
Age at visit: 60 years (Visit 4)
Age at visit: 60 years (Visit 5)
Age at visit: 60 years (Visit 6)
Age at visit: 60 years (Visit 7)
Age at visit: 60 years (Visit 8)
Age at visit: 60 years (Visit 9)
Age at visit: 61 years
Age at visit: 61 years (Visit 2)
Age at visit: 61 years (Visit 3)
Age at visit: 61 years (Visit 4)
Age at visit: 61 years (Visit 5)
Age at visit: 61 years (Visit 6)
Age at visit: 61 years (Visit 7)
Age at visit: 62 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Malattia Leventinese EFEMP1 Arg345Trp CGG>TGG   AD
Disease:
Malattia Leventinese
Gene:
EFEMP1
Allele 1:
Arg345Trp CGG>TGG
Allele 2:
 
Inheritance:
AD
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