OSLI Retina

October 2020

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588 Ophthalmic Surgery, Lasers & Imaging Retina | Healio.com/OSLIRetina ■ C A S E R E P O R T ■ Familial Exudative Vitreoretinopathy With Neurodevelopmental Delay and Hypoplasia of the Corpus Callosum Giulia M. Amorelli, MD; Costanza Barresi, MD; Marco H. Ji, MD; Lorenzo Orazi, MD; Fernando Molle, MD; Domenico Lepore, MD ABSTRACT: A 2-year-old child was referred to the authors' pediatric retina service for bilateral retinal folds, strabismus, and psychomotor retardation, as well as marked thinning of the corpus callosum. Family history was unremarkable and genetic test- ing revealed a previously undescribed mutation in the LRP5 gene. Widefield fundus photography, fluorescein angiography, and spectral-domain opti- cal coherence tomography were used to image the retinal fundus. The authors' case suggests a cor- relation between LRP5 and neurological develop- ment, since its variants may lead to a syndromic condition characterized by FEVR-like abnormali- ties along with neurodevelopmental delay and hy- poplasia of the corpus callosum. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:588-591.] INTRODUCTION Familial exudative vitreoretinopathy (FEVR) is a hereditary retinal vascular disorder characterized by peripheral retinal abnormalities, such as avascu- lar areas, neovascularization, epiretinal membranes (ERMs), tractional retinal detachment (TRD) and con- genital falciform folds. 1,2 All these features can be found to a different extent in a wide range of pediat- ric retinal vascular conditions, 3 including retinopa- thy of prematurity, persistent hyperplastic primary vitreous, Norrie disease, incontinentia pigmenti, and congenital toxoplasmosis. 4-6 Examination with indi- rect ophthalmoscopy and fluorescein angiography (FA), combined with genetic testing, are fundamental in the diagnostic framework. Genetic testing of muta- tions of genes involved in the Wnt signaling pathway (FZD4, NDP, TSPAN12, and LRP5) 7-10 supports the diagnosis in less than half of patients, suggesting a broader spectrum of mutations is still unknown. 11,12 Herein, we report the case of a 2-year-old boy present- ing with bilateral retinal folds and neurodevelopmen- tal delay, later confirmed to have a genetic mutation suggestive of FEVR. CASE REPORT A 2-year-old boy was referred for nystagmus to the pediatric retina service at "Agostino Gemelli" Uni- versity Hospital, Rome, Italy. Previous examination at another hospital at 7 months of age reported pres- ence of nystagmus, hypopigmented fundus, rigid reti- nal folds extending from the optic nerve to the retinal periphery with optic nerve distortion, and macular involvement. The child also presented psychomotor retardation, and magnetic resonance imaging (MRI) showed thinning of the corpus callosum. Genetic testing revealed compound heterozygosity of the pa- ternal segregated variant c.2123C>T (p. Ser708Leu) and of the maternally segregated variant c.4622C>G (p.Thr1541Arg) in the LRP5 gene, which is associ- ated with type IV FEVR. Family history was nega- tive for neurological abnormalities, developmental From Institute of Ophthalmology, Università Cattolica del Sacro Cuore, Rome, Italy (GMA, CB, FM, DL); Byers Eye Institute, Horngren Family Vitreo- retinal Center, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California (MHJ); the Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York (MHJ); Italian National Center of Services and Research for Prevention of Blindness and Rehabilitation of the Visually Impaired, Rome, Italy (LO); and Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy (FM, DL). Originally submitted July 3, 2020. Revision received July 3, 2020. Accepted for publication July 9, 2020. The authors report no relevant financial disclosures. Address correspondence to Marco H. Ji, MD, Department of Medicine, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Pl., New York, NY 10029; email: marcoji@stanford.edu. doi: 10.3928/23258160-20201005-07

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