Here I present: “Wagner Erosive Vitreoretinopathy Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 侵蝕性玻璃體視網膜病變。icd10=H35.9 (WGVRP).
INTRODUCTION.
Wagner erosive vitreoretinopathy syndrome (WGVRP) is a vitreoretinal degeneration inherited as an autosomal dominant trait, first 1938 described by H. Wagner in a large Swiss pedigree and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an ’empty’ vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome. Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated ‘erosive vitreoretinopathy‘ (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner syndrome or erosive vitreoretinopathy.
There is evidence that Wagner erosive vitreoretinopathy syndrome (WGVRP) is caused by heterozygous mutation in the gene encoding versican (VCAN), also known as chondroitin sulfate proteoglycan-2 on cytogenetic location 5q14.2-q14.3 and genomic coordinates 5:83,471,744-83,582,302. The screenshot of the VCAN gene 110,559 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides VCAN in the 5q14.2-q14.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:82,273,320 | RPS23 | Ribosomal protein S23 |
| 5:83,052,846 | TMEM167A | Transmembrane protein 167A |
| 5:83,064,204 | SCARNA18 | Small cajal body-specific RNA 18 |
| 5:83,077,547 | XRCC4 | X-ray repair cross complementing 4 |
| 5:83,471,744 | VCAN | Versican (chondroitin sulfate proteoglycan-2) |
| 5:83,500,001 | PVNH5 | Periventricular nodular heterotopia 5 |
| 5:83,637,805 | HAPLN1 | Hyaluronan and proteoglycan link protein 1 |
| 5:83,940,554 | EDIL3 | Egf-like repeats- and discoidin I-like protein 3 |
| 5:86,617,941 | COX7C | Cytochrome C oxidase, subunit VII C |
| 5:87,267,883 | RASA1 | RAS p21 protein activator 1 |
