| Literature DB >> 29333293 |
Giancarlo Iarossi1, Matteo Bertelli2, Paolo Enrico Maltese3, Elena Gusson4, Giorgio Marchini4, Alice Bruson3, Sabrina Benedetti3, Sabrina Volpetti5, Gino Catena1, Luca Buzzonetti1, Lucia Ziccardi6.
Abstract
[This corrects the article DOI: 10.1155/2017/3080245.].Entities:
Year: 2017 PMID: 29333293 PMCID: PMC5733137 DOI: 10.1155/2017/7969364
Source DB: PubMed Journal: J Ophthalmol ISSN: 2090-004X Impact factor: 1.909
Features of genetic variations found in FEVR families.
| Family ID | Genotype | Nucleotide change | Amino acid change | SIFT | Polyphen | Mutation taster | Classification | References |
|---|---|---|---|---|---|---|---|---|
| Fam. 1 | Het | c.277C>T | p.(Gln93∗) | — | — | — | Pathogenic | Novel variant |
| Fam. 2 | Het | c.542G>A | p.(Cys181Tyr) | T | PrD | DC | Pathogenic | [31] |
| Fam. 3 | Het | c.611G>T | p.(Cys204Phe) | D | PrD | DC | Likely pathogenic | Novel variant |
| Fam. 4 | Hemi | c.362G>A | p.(Arg121Gln) | D | PrD | DC | Pathogenic | [25] |
| Fam. 5 | Hemi | c.313G>C | p.(Ala105Pro) | D | PrD | DC | Likely pathogenic | Novel variant |
| Fam. 6 | Het | c.67-2A>G | Defective splicing | — | — | — | Likely pathogenic | Novel variant |
Figure 1Pedigree and ocular features of family 5. Color fundus photographs by RetCam from the 3 y/o male proband (II:1) of family 5 showing a closed funnel total retinal detachment in the right eye and peripheral exudation with vascular abnormalities before and after laser treatment in the left eye. Fluorescein angiograms performed with RetCam before and after laser treatment showing peripheral ischemic areas with leakage mainly in temporal and inferior peripheral retina in the left eye. Top right, OCT macular scans from the proband's mother (I:2) showing normal retinal features. ∗Documented clinical evaluation; E+, positive to genetic test; RE, right eye; LE, left eye; LE∗, images taken at a subsequent examination after the laser treatment.