Hypothesis

Patient P5 A 32-year-old man accessed the ophthalmic emergency service in 2010. BCVA was 20/32 in OD, and the fundoscopic examination revealed three peripheral RCHs with retinal detachment and a juxtapapillary fibrovascular membrane (Figure 4). Moreover, two small retinal lesions were detected in OS, and BCVA of OS was 20/20. The patient underwent retinal surgery in OS (scleral buckle and transscleral cryotherapy); then, the lesions of both eyes were treated with multiple laser sessions. The CNS imaging revealed the presence of multiple cerebellar and spinal hemangioblastomas. In 2012, cataract surgery was performed in OD. In August 2019, BCVA was 20/20 OU, and regression of all the RCHs was observed.

PatientID: 5

KindredID: 3

Case: M, 41Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: A family pedigree is provided in figure 1. Both the son and daughter of patient 5 were found to have the same mutation. Neither the 10-year-old daughter, nor the 7-year-old son had RCHs or any other tumors.

CasePresentingHPOs: HP:0006880; HP:0009711; HP:0009713; HP:0000541 (Cerebellar hemangioblastoma; Retinal capillary hemangioma; Spinal hemangioblastoma; Retinal detachment)

CaseHPOFreeText: Patient had an ophthalmic emergency service in 2010 at age 32Y0M. His visual acuity was 20/32 in the right eye, but fundoscopic examination revealed three peripheral RCHs with retinal detachment. Moreover, two small retinal lesions were detected in the left eye, yet the visual acuity of this eye was 20/20. The patient underwent retinal surgery in the left eye and lesions of both eyes were treated with multiple laser sessions. CNS imaging revealed multiple cerebellar and spinal hemangioblastomas. In 2012, cataract surgery was performed in the right eye. In 2019, visual acuity was 20/20 in both eyes and all the RCHs regressed.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161* (c.481C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: R161* (c.481C>T)

MultipleGeneVariants: N/A

Mutation:Germline InheritancePattern:AutosomalDominant MutationType:stop_gained FamilyPedigree DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:retinaldetachment AgeOfPresentation:retinalcapillaryhemangioma:32 AgeOfPresentation:spinalhemangioblastoma:32 AgeOfPresentation:cerebellarhemangioblastoma:32 AgeOfPresentation:retinaldetachment:32 ClinVarID:2217 ClinVarID:Yes CivicName:R161*(c.481C>T) cDNAPosition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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