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StoneRounds Disease Atlas SR73

SR73

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AD Familial Exudative Vitreoretinopathy (IIIE2b)

Male

Male

SR73

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AD Familial Exudative Vitreoretinopathy (IIIE2b)

Male

Male

Highlighted Images

Age at visit: 23 months
OD OS
UCUSUM*
CUSM*

History

This 23 month old male has had nystagmus since shortly after birth. He was born at term (7lbs 12oz).

Pedigree

Age at visit: 23 months
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 2 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 4 years
Age at visit: 5 years
Age at visit: 6 years
Age at visit: 6 years (Visit 2)
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 8 years (Visit 2)
Age at visit: 9 years
Age at visit: 10 years
Age at visit: 11 years
Age at visit: 12 years
Age at visit: 12 years (Visit 2)
Age at visit: 13 years
Age at visit: 13 years (Visit 2)
Age at visit: 14 years
Age at visit: 14 years (Visit 2)
Age at visit: 15 years
Age at visit: 15 years (Visit 2)
Age at visit: 16 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Familial Exudative Vitreoretinopathy FZD4 Ser228Arg AGC>CGC   AD
Disease:
AD Familial Exudative Vitreoretinopathy
Gene:
FZD4
Allele 1:
Ser228Arg AGC>CGC
Allele 2:
 
Inheritance:
AD
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