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StoneRounds Disease Atlas SR31

SR31

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von Hippel Lindau (IIID1)

Male

Male

SR31

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von Hippel Lindau (IIID1)

Male

Male

Highlighted Images

Age at visit: 16 years
OD OS
20/100
20/20

History

16 year old male has experienced reduced acuity OD for one month.

Refraction OD:     -2.25 sphere
Refraction OS:     -2.50 sphere

Pedigree

Teaching Points

The clinical features favoring the diagnosis of von Hippel Lindau disease in this patient include multiple retinal hemangioblastomas in both eyes and a family history of similarly affected relatives with an autosomal dominant pattern (multiple generations -- male to male transmission).

Age at visit: 10 years
Age at visit: 11 years
Age at visit: 11 years (Visit 2)
Age at visit: 11 years (Visit 3)
Age at visit: 16 years
Age at visit: 16 years (Visit 2)
Age at visit: 16 years (Visit 3)
Age at visit: 16 years (Visit 4)
Age at visit: 16 years (Visit 5)
Age at visit: 16 years (Visit 6)
Age at visit: 19 years
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Age at visit: 23 years
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Age at visit: 23 years (Visit 4)
Age at visit: 23 years (Visit 5)
Age at visit: 24 years
Age at visit: 24 years (Visit 2)
Age at visit: 24 years (Visit 3)
Age at visit: 24 years (Visit 4)
Age at visit: 25 years
Age at visit: 26 years
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Age at visit: 27 years
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Age at visit: 28 years
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Age at visit: 29 years
Age at visit: 29 years (Visit 2)
Age at visit: 29 years (Visit 3)
Age at visit: 30 years
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Age at visit: 31 years
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Age at visit: 32 years
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Age at visit: 33 years (Visit 2)
Age at visit: 34 years
Age at visit: 34 years (Visit 2)
Age at visit: 35 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
von Hippel Lindau VHL Asn78Ser AAT>AGT   AD
Disease:
von Hippel Lindau
Gene:
VHL
Allele 1:
Asn78Ser AAT>AGT
Allele 2:
 
Inheritance:
AD
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