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Journal of Ophthalmology
Volume 2017 (2017), Article ID 3080245, 10 pages
Research Article

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

1Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy
2MAGI-Human Medical Genetics Institute, Bolzano, Italy
3MAGI-Human Medical Genetics Institute, Rovereto, Italy
4Eye Clinic, Department of Neurosciences, Biomedicine and Movement, University and AOUI (Azienda Ospedaliera Universitaria Integrata) of Verona, Verona, Italy
5Dipartimento 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

Received 3 April 2017; Accepted 4 June 2017; Published 5 July 2017

Academic Editor: Naheed Khan

Copyright © 2017 Giancarlo Iarossi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7–19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP. Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing. Six out of eight probands (75%) showed a genetic variation probably related to the phenotype. We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR. Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants) and two X-linked FEVR probands (NDP variants). None of the patients showed variants in the LRP5 gene. This study represents the largest cohort study in Italian FEVR patients. Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family.