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StoneRounds Disease Atlas SR2310

SR2310

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Malattia Leventinese (IIJ)

Male

Male

SR2310

Grid View Download View

Malattia Leventinese (IIJ)

Male

Male

Highlighted Images

Age at visit: 25 years (Visit 2)
OD OS
20/20 sc
20/15 sc

History

This 25 year old man had fundus abnormalities noticed incidentally on a routine eye exam.

Pedigree

Age at visit: 25 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 25 years (Visit 2)

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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