Patient P8 In October 2019, visual impairment was diagnosed in a 14-year-old boy. BCVA was 20/20 and 20/640 in OD and OS, respectively. Four peripheral RCHs were detected in OD. In OS, multiple RCHs were present; the largest was located temporally, and it consisted in the coalescence of many RCHs. The visual impairment of OS was due to the severe exudative process which involved the macula. Moreover, FA revealed numerous microhemangioblastomas that could not be detected using other diagnostic techniques. Laser therapy was performed in OU, but vitreous hemorrhage occurred in OS. Therefore, three anti-VEGF IV (bevacizumab) and simultaneous transscleral cryotherapies were performed under general anesthesia. Many laser sessions were necessary to obtain regression of the RCHs. Further investigations revealed the presence of a cerebellar hemangioblastoma.
PatientID: 8
KindredID: 4
Case: M, 14Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: A family pedigree is provided in figure 1. The parents of patient 8 were molecularly tested and neither possessed the mutation; thus, the mutation was identified as de novo. Neither parent had VHL syndrome characterized by retinal capillary hemangiomas (RCHs).
CasePresentingHPOs: HP:0006880; HP:0009711 (Cerebellar hemangioblastoma; Retinal capillary hemangioma)
CaseHPOFreeText: In 2019, a 14-year-old boy was diagnosed with visual impairment, due to visual acuity of 20/20 in the right eye and 20/640 in the left eye. Four peripheral RCHs were detected in the right eye. The visual impairment of the left eye was due to the severe exudative process involving the macula. Moreover, numerous microhemangioblastomas were revealed by fluorescein angiography. Laser therapy was performed in both eyes, but vitreous hemorrhage occurred in the left eye. Bevacizumab was given three times, as well simultaneous cryotherapies were performed under general anesthesia. Many laser sessions were performed for regression of the RCHs to occur. Further testing revealed a cerebellar hemangioblastoma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: Patient did not have other known tumours.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R113* (c.337C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 220414, https://www.ncbi.nlm.nih.gov/clinvar/variation/220414/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: stop_gained
CivicName: R113* (c.337C>T)
MultipleGeneVariants: N/A