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StoneRounds Disease Atlas SR2776

SR2776

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Pattern Dystrophy (IIC)

Female

Female

SR2776

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Pattern Dystrophy (IIC)

Female

Female

Highlighted Images

Age at visit: 42 years
OD OS
20/30 +1
20/20

History

This 42 year old woman had headaches and pulse-synchronous tinnitus in her mid 30's. She had a lumbar puncture with an opening pressure of 42 cm of water. While being worked-up for this, macular abnormalities were noted. A few weeks before we first saw her, she noticed some distortion in the vision of her right eye while watching TV.

Pedigree

Age at visit: 42 years
Age at visit: 42 years (Visit 2)
Age at visit: 42 years (Visit 3)
Age at visit: 43 years
Age at visit: 43 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Cys214Stop TGC>TGA   AD
Disease:
Pattern Dystrophy
Gene:
PRPH2
Allele 1:
Cys214Stop TGC>TGA
Allele 2:
 
Inheritance:
AD
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