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StoneRounds Disease Atlas SR337

SR337

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Foveal Hypoplasia (IIIG)

Female

Female

SR337

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Foveal Hypoplasia (IIIG)

Female

Female

Highlighted Images

Age at visit: 55 years
OD OS
20/25 -2*
20/200*

Pedigree

Age at visit: 55 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 56 years
Age at visit: 57 years
Age at visit: 57 years (Visit 2)
Age at visit: 57 years (Visit 3)
Age at visit: 57 years (Visit 4)
Age at visit: 58 years
Age at visit: 58 years (Visit 2)
Age at visit: 59 years
Age at visit: 59 years (Visit 2)
Age at visit: 60 years
Age at visit: 60 years (Visit 2)
Age at visit: 61 years
Age at visit: 62 years
Age at visit: 62 years (Visit 2)
Age at visit: 63 years
Age at visit: 63 years (Visit 2)
Age at visit: 65 years
Age at visit: 66 years
Age at visit: 67 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Foveal Hypoplasia PAX6 Pro76Leu CCG>CTG   AD
Disease:
Foveal Hypoplasia
Gene:
PAX6
Allele 1:
Pro76Leu CCG>CTG
Allele 2:
 
Inheritance:
AD
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