Patient P9 In 2005, a 32-year-old woman was examined at the clinic. The patient had been diagnosed in 2000 with multiple cerebellar and spinal hemangioblastomas. BCVA was 20/20 and 20/25 in OD and OS, respectively. No retinal abnormalities were found in OD. A peripheral superior RCH, already partially treated with laser photocoagulation, was observed in OS. FA showed the presence of many tiny RCHs that surrounded the major lesion. Further laser treatments were scheduled, but the patient was lost at follow-up. She came to the ophthalmic emergency service three years later; BCVA of OS had decreased to 20/640, and she presented an exudative retinal detachment that involved the posterior pole. The partially treated RCH of OS had become more extensive, and FA revealed that the tiny RCHs had increased in number. In 2008, a scleral buckle with transscleral cryotherapy was performed in OS; however, at follow-up the retinal detachment was still present, and the patient developed neovascular glaucoma with a seclusio pupillae. Visual acuity of OS was no light perception. RCHs were not detected during follow-up in OD.
PatientID: 9
KindredID: 5
Case: F, 46Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: A family pedigree is provided in figure 1. Neither parent had VHL syndrome characterized by retinal capillary hemangiomas (RCHs). They likely did not undergo molecular testing because there was no mention of de novo status.
CasePresentingHPOs: HP:0006880; HP:0009711; HP:0009713; HP:0000541 (Cerebellar hemangioblastoma; Retinal capillary hemangioma; Spinal hemangioblastoma; Retinal detachment)
CaseHPOFreeText: A 32-year-old woman had been diagnosed in 2000 with multiple cerebellar and spinal hemangioblastomas. In 2005, she was examined at the eye clinic and were visual acuity was 20/20 and 20/25 in the right and left eye, respectively. No abnormalities were found in the right eye, but a peripheral RCH that was already partially treated with laser was observed in the left eye. Many tiny RCHs that surrounded the major lesion were also detected in this eye. Further laser treatments were scheduled, but the patient did not follow-up and instead came to the ophthalmic emergency service three years later. Visual acuity of the left eye worsened to 20/640, and she presented with retinal detachment. The partially treated RCH of the left eye worsened and and more tiny RCHs were detected. Cryotherapy was performed in the left eye but retinal detachment was still present at follow up. On follow up, no RCHs were detected in the right eye and vision loss developed in both eyes.
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