Case 1. A 29-year-old male patient was referred to the retina department. About 1 month previously, percutaneous radiofrequency ablation treatment was performed on the patient due to RCC in his left kidney (Figure 1). Central nervous system involvement was not detected in the patient.Open in a separate windowFigure 1Abdominal computerized tomography image of case 1. Renal cell carcinoma in the left kidney (preoperatively).On ophthalmological examination, best-corrected visual acuity (BCVA) was counting fingers from 2 meters in the right eye and 1.0 in the left eye on the Snellen acuity visual chart. Vitritis was detected in the right eye on slit-lamp biomicroscopy. The fundus examination revealed an extensive lipid exudation on the fovea and macula, and a 3-4 optic disc diameter-sized RH at the equator in the right eye; it was normal in the lefteye. Fundus fluorescein angiography (FFA) showed that the RH in the right eye was responsible for fluorescein staining on the feeding artery and drainage vein and fluorescein leakage. Optical coherence tomography (OCT) showed that there was a foveal detachment in the right eye (Figure 2).Open in a separate windowFigure 2Optical coherence tomography and fundus fluorescein angiography images of Case 1.The patient’s blood sample was collected in vacutainers containing EDTA as anticoagulant. After DNA extraction (EZ1 Advanced Instruments; Qiagen, Hilden, Germany), mutation analysis of the VHL gene ({"type":"entrez-nucleotide","attrs":{"text":"NG_008212.3","term_id":"319803102","term_text":"NG_008212.3"}}NG_008212.3, {"type":"entrez-nucleotide","attrs":{"text":"NM_000551","term_id":"1779521775","term_text":"NM_000551"}}NM_000551) was performed using Sanger sequencing with the ABI PRISM™ 3130 Avant system (Applied Biosystems, Grand Island, NY, USA). The entire coding region and the exon/intron boundaries of the VHL gene (transcript ENST00000256474) were sequenced. The amplicon panel primers and conditions used were established in the laboratory.A heterozygous missense mutation c.202T>C, (p.Ser 68Pro) in exon 1 of the VHL gene was found in the pa-tient’s DNA sample (Figure 3). This mutation is reported in the HGMD-PUBLIC (CM073416) (http://www.hgmd.org).Open in a separate windowFigure 3A heterozygous missense mutation c.202T>C, (p.Ser68Pro) in exon 1 of the VHL gene.The pathogenicity of the variation was tested in the Polyphen database and it was scored as probably damaging [probably damaging with a score of 0.960 (sensitivity: 0.78; specificity: 0.95)]. However, this variation was not listed the in the Exac database.