Balkan Journal of Medical Genetics

VON HIPPEL-LINDAU DISEASE: THE CLINICAL MANIFESTATIONS AND GENETIC ANALYSIS RESULTS OF TWO CASES FROM A SINGLE FAMILY
Kinyas S1, Ozal SA1,*, Guclu H1, Gurlu V1, Esgin H1, Gurkan H2
*Corresponding Author: Dr. Sadık Altan Ozal, Trakya Üniversitesi Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Edirne 22030, Turkey. Tel: +90-505-450-42-67. Fax: +90-284-223-55-06. E-mail: altanozal@hotmail.com
page: 65

CASE REPORT

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. 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 diametersized RH at the equator in the right eye; it was normal in the left eye. 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). 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 (NG_008212.3, 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). 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. Case 2. A 33-year-old male patient (who is the first cousin of Case 1) was referred to the retina department. He was operated on because of a CNS hemangioblastoma 3 years earlier (Figure 4). The patient stated that he had vision loss in his left eye after the CNS operation. About 2 weeks earlier, a partial right nephrectomy operation was performed due to RCC (Figure 5). Best-corrected visual acuity was 1.0 on the Snellen acuity chart in the right eye and no light perception in the left eye. Biomicroscopic examination was normal in both eyes. The fundus examination revealed optic nerve atrophy and two RH at the equator in the left eye, and was normal in the right eye. Fundus fluorescein angiography showed that hyperfluorescence and fluorescein leakage was caused by the lesions. Hyper reflectance was observed under the cross-section of the RH, and the macular section was normal in OCT (Figure 6). The same mutation as in Case 1 was also detected in the genetic analysis (c.202T>C, p.Ser 68Pro).

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