A 20-year-old Caucasian woman presented to our institution with decreased vision in the right eye (RE) with a 4-month evolution. The patient’s vital signs were within normal limits, and no abnormalities were noticed upon physical and neurological examination. Similarly, her past medical history was unremarkable. Her best corrected visual acuity (BCVA) was 50 ETDRS (Early Treatment Diabetic Retinopathy Study) letters in the RE and 84 ETDRS letters in the left eye. Her intraocular pressure (IOP) was normal in both eyes, and the result of her anterior segment examination was unremarkable. Upon ophthalmoscopic examination, a red-colored globular lesion of 3 disk diameters (DDs) with prominent feeder vessels was noticed in the superior temporal region of the retina in the RE (Fig. 1). The fellow eye was normal on fundus examination, and no other lesions were found in the posterior pole or periphery. Optical coherence tomography (OCT) was carried out using the DRI OCT Triton™ SS-OCT device (Topcon Medical, Tokyo, Japan).
PatientID: None
KindredID: 1
Case: F, 20Y0M, Caucasian
DiseaseAssertion: VHL
FamilyInfo: The patient’s mother had died of pulmonary edema during pregnancy at the age of 40.
CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)
CaseHPOFreeText: The patient presented with decreased vision in the right eye with a 4-month evolution. The patient’s vital signs were within normal limits, and no abnormalities were noticed upon physical and neurological examination. Similarly, her past medical history was unremarkable. Upon ophthalmoscopic examination, a red-colored globular lesion of 3 disk diameters with prominent feeder vessels was noticed in the superior temporal region of the retina. A structural OCT B-scan showed a diffuse cystoid macular edema, which involved the posterior pole and expanded outside the vascular arcades. The other eye was normal.
CaseNotHPOs: HP:0012443; HP:0011732 (Abnormality of brain morphology, abnormality of renal morphology)
CaseNotHPOFreeText: Results of renal ultrasonography and magnetic resonance imaging of the brain were both negative for visceral lesions.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Y112C (c.335A>G)
LegacyVariant: N/A
ClinVarID: 223189, https://www.ncbi.nlm.nih.gov/clinvar/variation/223189/
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: Y112C(c.335A>G)
MultipleGeneVariants: N/A