SR1852

von Hippel Lindau (IIID1)

Male

Male

SR1852

von Hippel Lindau (IIID1)

Male

Male

Highlighted Images

Age at visit: 16 years
OD OS

History

This 17 year old man had a fundus abnormality discovered in his right eye under routine examination. He has no visual complaints.

Pedigree

Age at visit: 16 years
Age at visit: 16 years (Visit 2)
Age at visit: 17 years
Age at visit: 18 years
Age at visit: 19 years
Age at visit: 20 years
Age at visit: 21 years
Age at visit: 22 years
Age at visit: 23 years
Age at visit: 23 years (Visit 2)
Age at visit: 24 years
Age at visit: 25 years
Age at visit: 26 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
von Hippel Lindau VHL Tyr98His TAC>CAC   AD
Gene:
Allele 1:
Tyr98His TAC>CAC
Allele 2:
 
Inheritance:
AD
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