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StoneRounds Disease Atlas SR591

SR591

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Achromatopsia (IA2d)

Female

Female

SR591

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Achromatopsia (IA2d)

Female

Female

Highlighted Images

Age at visit: 62 years
OD OS
Count Fingers 3'
Count Fingers 3'

History

This 62 year old woman was born three weeks early and received oxygen in the first few weeks of life (1949). Nystagmus was noted by the time she was released from the hospital.

Pedigree

Age at visit: 31 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 32 years
Age at visit: 37 years
Age at visit: 41 years
Age at visit: 49 years
Age at visit: 55 years
Age at visit: 58 years
Age at visit: 62 years
Age at visit: 67 years
Age at visit: 70 years
Age at visit: 72 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Achromatopsia CNGB3 Thr383 del1aC Thr383 del1aC AR
Disease:
Achromatopsia
Gene:
CNGB3
Allele 1:
Thr383 del1aC
Allele 2:
Thr383 del1aC
Inheritance:
AR
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