Case 2. A 33-year-old male patient (who is the first cousin of Case 1) was referred to the retina department. He was operated on because of a CNS hemangioblastoma 3 years earlier (Figure 4). The patient stated that he had vision loss in his left eye after the CNS operation. About 2 weeks earlier, a partial right nephrectomy operation was performed due to RCC (Figure 5).Open in a separate windowFigure 4Preoperative and postoperative magnetic resonance images of the CNS haemangioblastoma (Case 2).Open in a separate windowFigure 5Abdominal computerized tomography image of Case 2. Renal cell carcinoma in the right kidney (preoperatively).Best-corrected visual acuity was 1.0 on the Snellen acuity chart in the right eye and no light perception in the left eye. Biomicroscopic examination was normal in both eyes. The fundus examination revealed optic nerve atrophy and two RH at the equator in the left eye, and was normal in the right eye. Fundus fluorescein angiography showed that hyperfluorescence and fluorescein leakage was caused by the lesions. Hyper reflectance was observed under the cross-section of the RH, and the macular section was normal in OCT (Figure 6). The same mutation as in Case 1 was also detected in the genetic analysis (c.202T>C, p.Ser
PatientID: None
KindredID: 1
Case: M, 33Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: First cousin (male, 29Y, proband) presented with renal cell carcinoma, vitritis, retinal capillary hemangioma and retinal detachment. The proband also had the germline mutation found in his cousin.
CasePresentingHPOs: HP:0005584; HP:0010797; HP:0009711; HP:0000648; HP:0000572 (Renal cell carcinoma, Hemangioblastoma, Retinal capillary hemangioma, Optic atrophy, Visual loss)
CaseHPOFreeText: He was operated on because of a CNS hemangioblastoma 3 years earlier. The patient stated that he had vision loss in his left eye after the CNS operation. About 2 weeks earlier, a partial right nephrectomy operation was performed due to RCC. The fundus examination revealed optic nerve atrophy and two RH (determined to be the cause of vision loss) at the equator in the left eye, and was normal in the right eye.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.S68P (c.202T>C)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA16621912, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA16621912
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: S68P (c.202T>C)
MultipleGeneVariants: N/A