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StoneRounds Disease Atlas SR741

SR741

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SECORD (IA2b)

Female

Female

SR741

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SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 4 years
OD OS
20/250
20/320

History

This 4 year old girl was noted to have nystagmus in the first few months of life. Her mother reports that she vastly prefers being in a brightly lit room.

Pedigree

Age at visit: 4 years
Age at visit: 6 years
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 9 years
Age at visit: 11 years
Age at visit: 11 years (Visit 2)
Age at visit: 11 years (Visit 3)
Age at visit: 11 years (Visit 4)
Age at visit: 11 years (Visit 5)
Age at visit: 12 years
Age at visit: 12 years (Visit 2)
Age at visit: 12 years (Visit 3)
Age at visit: 13 years
Age at visit: 13 years (Visit 2)
Age at visit: 14 years
Age at visit: 15 years
Age at visit: 16 years
Age at visit: 17 years
Age at visit: 19 years
Age at visit: 20 years
Age at visit: 21 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD RPE65 IVS1+5 G>A Lys297 del1 aggA AR
Disease:
SECORD
Gene:
RPE65
Allele 1:
IVS1+5 G>A
Allele 2:
Lys297 del1 aggA
Inheritance:
AR
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