StoneRounds Disease Atlas SR1868
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StoneRounds Disease Atlas SR1868

Case

SR1868

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AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

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SR1868

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Student Mode

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

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Age at visit: 35 years
OD OS
20/32 -1
20/32

History

This 35-year-old man has been moderately near sighted since childhood but was correctable to 20/20 until age 10 or 12. He experienced a slow reduction of acuity in the 2nd decade of life, accompanied by photophobia and some difficulty discriminating colors. He sees normally in dim light.

Pedigree

Age at visit: 35 years
ODOS
20/32 -1
20/32
ODOS
20/32 -1
20/32
ODOS
20/32 -1
20/32
ODOS
20/32 -1 OCT Stack
20/32 OCT Stack
ODOS
20/32 -1
20/32
Age at visit: 38 years
ODOS
20/40
20/40
ODOS
20/40 OCT Stack
20/40 OCT Stack
ODOS
20/40
20/40
ODOS
20/40
20/40
Age at visit: 39 years
ODOS
20/100
20/100 +1
ODOS
20/100 OCT Stack
20/100 +1 OCT Stack
ODOS
20/100
20/100 +1

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Cone and Cone Rod Dystrophy GUCA1A Leu151Phe CTC>TTC   AD
Disease:
AD Cone and Cone Rod Dystrophy
Gene:
GUCA1A
Allele 1:
Leu151Phe CTC>TTC
Allele 2:
 
Inheritance:
AD
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