SR1763

von Hippel Lindau (IIID1)

Female

Female

SR1763

von Hippel Lindau (IIID1)

Female

Female

Highlighted Images

Age at visit: 25 years
OD OS

History

This 25 year old woman came to attention when her obstetrician noticed abnormal optic nerves on direct ophthalmoscopy. After her third visit at age 46, treatment was initiated with belzutifan (Welireg).

Pedigree

Age at visit: 11 years
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 11 years (Visit 2)
Age at visit: 13 years
Age at visit: 16 years
Age at visit: 19 years
Age at visit: 20 years
Age at visit: 21 years
Age at visit: 23 years
Age at visit: 25 years
Age at visit: 27 years
Age at visit: 27 years (Visit 2)
Age at visit: 28 years
Age at visit: 29 years
Age at visit: 31 years
Age at visit: 31 years (Visit 2)
Age at visit: 32 years
Age at visit: 32 years (Visit 2)
Age at visit: 32 years (Visit 3)
Age at visit: 32 years (Visit 4)
Age at visit: 32 years (Visit 5)
Age at visit: 33 years
Age at visit: 33 years (Visit 2)
Age at visit: 33 years (Visit 3)
Age at visit: 33 years (Visit 4)
Age at visit: 34 years
Age at visit: 34 years (Visit 2)
Age at visit: 35 years
Age at visit: 35 years (Visit 2)
Age at visit: 35 years (Visit 3)
Age at visit: 35 years (Visit 4)
Age at visit: 36 years
Age at visit: 36 years (Visit 2)
Age at visit: 36 years (Visit 3)
Age at visit: 36 years (Visit 4)
Age at visit: 36 years (Visit 5)
Age at visit: 36 years (Visit 6)
Age at visit: 36 years (Visit 7)
Age at visit: 36 years (Visit 8)
Age at visit: 36 years (Visit 9)
Age at visit: 36 years (Visit 10)
Age at visit: 36 years (Visit 11)
Age at visit: 36 years (Visit 12)
Age at visit: 36 years (Visit 13)
Age at visit: 36 years (Visit 14)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 37 years
Age at visit: 37 years (Visit 2)
Age at visit: 37 years (Visit 3)
Age at visit: 37 years (Visit 4)
Age at visit: 37 years (Visit 5)
Age at visit: 37 years (Visit 6)
Age at visit: 37 years (Visit 7)
Age at visit: 37 years (Visit 8)
Age at visit: 37 years (Visit 9)
Age at visit: 37 years (Visit 10)
Age at visit: 38 years
Age at visit: 38 years (Visit 2)
Age at visit: 38 years (Visit 3)
Age at visit: 38 years (Visit 4)
Age at visit: 38 years (Visit 5)
Age at visit: 39 years
Age at visit: 39 years (Visit 2)
Age at visit: 39 years (Visit 3)
Age at visit: 39 years (Visit 4)
Age at visit: 39 years (Visit 5)
*Acuities for this visit are inferred from other visits in this case.
Age at visit: 39 years (Visit 6)
Age at visit: 39 years (Visit 7)
Age at visit: 39 years (Visit 8)
Age at visit: 39 years (Visit 9)
Age at visit: 40 years
Age at visit: 40 years (Visit 2)
Age at visit: 40 years (Visit 3)
Age at visit: 40 years (Visit 4)
Age at visit: 40 years (Visit 5)
Age at visit: 40 years (Visit 6)
Age at visit: 41 years
Age at visit: 41 years (Visit 2)
Age at visit: 41 years (Visit 3)
Age at visit: 41 years (Visit 4)
Age at visit: 41 years (Visit 5)
Age at visit: 41 years (Visit 6)
Age at visit: 41 years (Visit 7)
Age at visit: 41 years (Visit 8)
Age at visit: 41 years (Visit 9)
Age at visit: 41 years (Visit 10)
Age at visit: 41 years (Visit 11)
Age at visit: 41 years (Visit 12)
Age at visit: 41 years (Visit 13)
Age at visit: 41 years (Visit 14)
Age at visit: 41 years (Visit 15)
Age at visit: 41 years (Visit 16)
Age at visit: 41 years (Visit 17)
Age at visit: 41 years (Visit 18)
Age at visit: 42 years
Age at visit: 42 years (Visit 2)
Age at visit: 42 years (Visit 3)
Age at visit: 42 years (Visit 4)
Age at visit: 42 years (Visit 5)
Age at visit: 42 years (Visit 6)
Age at visit: 42 years (Visit 7)
Age at visit: 42 years (Visit 8)
Age at visit: 43 years
Age at visit: 43 years (Visit 2)
Age at visit: 43 years (Visit 3)
Age at visit: 43 years (Visit 4)
Age at visit: 43 years (Visit 5)
Age at visit: 43 years (Visit 6)
Age at visit: 43 years (Visit 7)
Age at visit: 43 years (Visit 8)
Age at visit: 44 years
Age at visit: 44 years (Visit 2)
Age at visit: 44 years (Visit 3)
Age at visit: 44 years (Visit 4)
Age at visit: 44 years (Visit 5)
Age at visit: 44 years (Visit 6)
Age at visit: 45 years
Age at visit: 45 years (Visit 2)
Age at visit: 45 years (Visit 3)
Age at visit: 45 years (Visit 4)
Age at visit: 45 years (Visit 5)
Age at visit: 45 years (Visit 6)
Age at visit: 45 years (Visit 7)
Age at visit: 46 years
Age at visit: 46 years (Visit 2)
Age at visit: 46 years (Visit 3)
Age at visit: 46 years (Visit 4)
Age at visit: 47 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
Cite this case