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StoneRounds Disease Atlas SR722

SR722

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Pattern Dystrophy (IIC)

Male

Male

SR722

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Pattern Dystrophy (IIC)

Male

Male

Highlighted Images

Age at visit: 34 years
OD OS
20/30*
20/30*

History

This 34 year old man has noticed slight blurring of his central vision over the past few months.

Pedigree

Age at visit: 34 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 38 years
Age at visit: 42 years
Age at visit: 52 years
Age at visit: 53 years
Age at visit: 55 years
Age at visit: 58 years
Age at visit: 60 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 IVS1-14 T>A   AD
Disease:
Pattern Dystrophy
Gene:
PRPH2
Allele 1:
IVS1-14 T>A
Allele 2:
 
Inheritance:
AD
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