Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".
 G. Iarossi, M. Bertelli, P. E. Maltese et al., "Genotype-phenotype characterization of novel variants in six Italian patients with familial exudative vitreoretinopathy," Journal of Ophthalmology, vol. 2017, Article ID 3080245, 10 pages, 2017.
Giancarlo Iarossi, (1) Matteo Bertelli, (2) Paolo Enrico Maltese, (3) Elena Gusson, (4) Giorgio Marchini, (4) Alice Bruson, (3) Sabrina Benedetti, (3) Sabrina Volpetti, (5) Gino Catena, (1) Luca Buzzonetti, (1) and Lucia Ziccardi (6)
(1) Department of Ophthalmology, Bambino Gesu IRCCS Children's Hospital, Rome, Italy
(2) MAGI-Human Medical Genetics Institute, Bolzano, Italy
(3) MAGI-Human Medical Genetics Institute, Rovereto, Italy
(4) Eye Clinic, Department of Neurosciences, Biomedicine and Movement, University and AOUI (Azienda Ospedaliera Universitaria Integrata) of Verona, Verona, Italy
(5) Dipartimento Anestesia e Rianimazione Materno Infantile, Ospedale San Filippo Neri, Rome, Italy
(6) "G.B. Bietti" Foundation, IRCCS, Rome, Italy
Correspondence should be addressed to Paolo Enrico Maltese; email@example.com
Received 14 September 2017; Accepted 4 October 2017; Published 30 November 2017
Caption: Figure 5: Pedigree 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.
Table 1: Features of genetic variations found in FEVR families. Family ID Gene Genotype Nucleotide change Fam. 1 FZD4 NM_012193 Het c.277C>T Fam. 2 FZD4 NM_012193 Het c.542G>A Fam. 3 FZD4 NM_012193 Het c.611G>T Fam. 4 NDP NM_000266 Hemi c.362G>A Fam. 5 NDP NM_000266 Hemi c.313G>C Fam. 6 TSPAN12 NM_012338 Het c.67-2A>G Family ID Gene Amino acid change SIFT Polyphen Fam. 1 FZD4 NM_012193 p.(Gln93*) -- -- Fam. 2 FZD4 NM_012193 p.(Cys181Tyr) T PrD Fam. 3 FZD4 NM_012193 p.(Cys204Phe) D PrD Fam. 4 NDP NM_000266 p.(Arg121Gln) D PrD Fam. 5 NDP NM_000266 p.(Ala105Pro) D PrD Fam. 6 TSPAN12 NM_012338 Defective splicing -- -- Family ID Gene Mutation taster Classification Fam. 1 FZD4 NM_012193 -- Pathogenic Fam. 2 FZD4 NM_012193 DC Pathogenic Fam. 3 FZD4 NM_012193 DC Likely pathogenic Fam. 4 NDP NM_000266 DC Pathogenic Fam. 5 NDP NM_000266 DC Likely pathogenic Fam. 6 TSPAN12 NM_012338 -- Likely pathogenic Family ID Gene References Fam. 1 FZD4 NM_012193 Novel variant Fam. 2 FZD4 NM_012193  Fam. 3 FZD4 NM_012193 Novel variant Fam. 4 NDP NM_000266  Fam. 5 NDP NM_000266 Novel variant Fam. 6 TSPAN12 NM_012338 Novel variant
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|Author:||Iarossi, Giancarlo; Bertelli, Matteo; Maltese, Paolo Enrico; Gusson, Elena; Marchini, Giorgio; Bruso|
|Publication:||Journal of Ophthalmology|
|Article Type:||Correction notice|
|Date:||Jan 1, 2017|
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