Twelve (75%) of 16 gene carriers were found to have ocular hemangioblastomas(Figure 1 and Figure 2), and 7 of these had bilateral disease (Table 1). The mean number of angiomas was 3.3. However, 1 individual had 22 angiomas, most of which were in an area of previous exudative retinal detachment (see the "Comment" section) (Table 2). Exclusion of this individual resulted in a mean number of angiomas of 2.1. Six eyes had optic disc angiomas (Figure 2). Six of the 19 eyes with ocular hemangioblastomas had visual acuity less than 20/40. Two patients had no light perception in one or both eyes. The average age at diagnosis of ocular angiomatosis was 37 years.
PatientID: 14
KindredID: 1
Case: Sex Unknown, 59Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Significant family history. Pedigree follows 8 generations (see Figure 3). Family immigrated to Iowa, US, from Baden-Baden, Germany, in 1832; Likely sharing a common ancestor to the traced lineage of the Black Forest region of Germany.
CasePresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)
CaseHPOFreeText: 56Y at CNS hemangioblastoma and first ocular angioma (retinal capillary hemangioma, bilateral). Total of 6 ocular angiomas and 1 CNS hemangioblastoma tumors.
CaseNotHPOs: HP:0002666; HP:0005584 (pheochromocytoma, renal cell carcinoma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Y98H (c.292T>C)
LegacyVariant: p.Y98H (c.505T>C)
CaseProblemVariantFreeText: N/A
ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/
CAID: N/A
gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: Y98H (c.292T>C)
MultipleGeneVariants: N/A