SR256

AD Cone and Cone Rod Dystrophy (IA1bii)

Female

Female

SR256

AD Cone and Cone Rod Dystrophy (IA1bii)

Female

Female

Highlighted Images

Age at visit: 60 years
OD OS

History

This 60 year old woman first started having difficulty with her central vision in her late 30's. She has no night blindness at all. She is moderately photophobic.

Pedigree

Age at visit: 58 years
Age at visit: 60 years
Age at visit: 63 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Cone and Cone Rod Dystrophy PROM1 Arg373Cys CGC>TGC   AD
Gene:
Allele 1:
Arg373Cys CGC>TGC
Allele 2:
 
Inheritance:
AD
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