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StoneRounds Disease Atlas SR53

SR53

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ECORD (IA2c)

Male

Male

SR53

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ECORD (IA2c)

Male

Male

Highlighted Images

Age at visit: 58 years
OD OS
20/32 -1
20/40 -1

History

This 68 year old man was two years old when his parents discovered he had poor vision in dim light. His visual acuity has been normal for most of his life.

Pedigree

Age at visit: 58 years
Age at visit: 59 years
Age at visit: 61 years
Age at visit: 63 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD PDE6B Leu527Pro CTG>CCG IVS18+1 G>A AR
Disease:
ECORD
Gene:
PDE6B
Allele 1:
Leu527Pro CTG>CCG
Allele 2:
IVS18+1 G>A
Inheritance:
AR
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