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StoneRounds Disease Atlas SR2368

SR2368

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SECORD (IA2b)

Female

Female

SR2368

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SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 13 years
OD OS
20/32 sc
20/25 -2 sc

History

This 13 year old female had 6 diopters of hyperopia at 2mo of age. As a toddler her parents noticed that she tripped over things more than her siblings did. At age 6 fundus abnormalities were noticed.

Pedigree

Age at visit: 13 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD CEP290 IVS28-1 G>A IVS49+1 G>A AR
Disease:
SECORD
Gene:
CEP290
Allele 1:
IVS28-1 G>A
Allele 2:
IVS49+1 G>A
Inheritance:
AR
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