Response letter: Serological evidence confirms the presumed diagnosis of Zika virus congenital infection in infants with microcephaly and ocular findings

FAV, Recife, PE, BrazilHosp Olhos HOPE, Recife, PE, BrazilUniv Fed Sao Paulo UNIFESP, EPM, Dept Ophthalmol & Visual Sci, Sao Paulo, SP, BrazilInst Visiao, Sao Paulo, SP, BrazilHosp Barao de Lucena, Recife, PE, BrazilHUOC, Recife, PE, BrazilUniv Fed Sao Paulo UNIFESP, EPM, Dept Ophthalmol & Visual Sci, Sao Paulo, SP, BrazilWeb of Scienc

Ophthalmological findings in infants with microcephaly and presumable intra-uterus Zika virus infection

ABSTRACT Purpose: In 2015, a twenty-fold increase in the prevalence of microcephaly in Brazil was reported, and the Ministry of Health associated this abnormal prevalence with the maternal-fetal Zika virus (ZIKV) transmission. Methods: We assessed the ophthalmological findings of ten mothers and their infants that had been clinically diagnosed with ZIKV-related microcephaly and presented ocular abnormalities, born from May to December 2015. Results: Seven mothers (70.0%) referred symptoms during pregnancy (malaise, rash and arthralgia), of which six (85.7%) were in the first trimester. At the time of exam, no ophthalmological abnormalities were identified in the mothers and they did not report ocular symptoms during pregnancy. Serology was negative in all infants for Toxoplasmosis, Rubella, Cytomegalovirus, Syphilis and Human Immunodeficiency Viruses. Ocular findings included macular alterations (gross pigment mottling and/or chorioretinal atrophy) in fifteen eyes (75.0%), and optic nerve abnormalities (hypoplasia with double-ring sign, pallor, and/or increased cup-to-disk ratio) in nine eyes (45.0%). Conclusions: Patients presented normal anterior segment and important macular and optic nerve abnormalities. Further studies will assess the visual significance of these alterations

Zika-related adverse outcomes in a cohort of pregnant women with rash in Pernambuco, Brazil.

BACKGROUND: While Zika virus (ZIKV) is now widely recognized as a teratogen, the frequency and full spectrum of adverse outcomes of congenital ZIKV infection remains incompletely understood. METHODS: Participants in the MERG cohort of pregnant women with rash, recruited from the surveillance system from December/2015-June/2017. Exposure definition was based on a combination of longitudinal data from molecular, serologic (IgM and IgG3) and plaque reduction neutralization tests for ZIKV. Children were evaluated by a team of clinical specialists and by transfontanelle ultrasound and were classified as having microcephaly and/or other signs/symptoms consistent with congenital Zika syndrome (CZS). Risks of adverse outcomes were quantified according to the relative evidence of a ZIKV infection in pregnancy. FINDINGS: 376 women had confirmed and suspected exposure to ZIKV. Among evaluable children born to these mothers, 20% presented with an adverse outcome compatible with exposure to ZIKV during pregnancy. The absolute risk of microcephaly was 2.9% (11/376), of calcifications and/or ventriculomegaly was 7.2% (13/180), of additional neurologic alterations was 5.3% (13/245), of ophthalmologic abnormalities was 7% (15/214), and of dysphagia was 1.8% (4/226). Less than 1% of the children experienced abnormalities across all of the domains simultaneously. Interpretation: Although approximately one-fifth of children with confirmed and suspected exposure to ZIKV in pregnancy presented with at least one abnormality compatible with CZS, the manifestations presented more frequently in isolation than in combination. Due to the rare nature of some outcomes and the possibility of later manifestations, large scale individual participant data meta-analysis and the long-term evaluation of children are imperative to identify the full spectrum of this syndrome and to plan actions to reduce damages

Ocular Findings in Children with Congenital Zika Syndrome

The zones of active Zika virus (ZIKV) infection are expanding globally with the northeastern part of Brazil being a major epicenter of the virus [1, 2]. When ZIKV first stroke Brazil in May 2015, the population was by far unprepared for the subsequent implications of this new disease to the Americas [1, 3]

FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion

A 7-year-old boy was diagnosed and treated for familial exudative vitreoretinopathy. Genetic testing revealed a 16p13.11 microdeletion and unbalanced translocation causing 11q deletion syndrome. This is the first report describing retinal findings associated with this combination of genetic alterations. Patients with 11q deletion syndrome or 16p13 microdeletions should undergo ophthalmologic examination. [J Pediatr Ophthalmol Strabismus. 2017;54:e71-e74.]

ABCA4 Mutation in a Patient With Juvenile Neuronal Ceroid Lipofuscinosis

A 5-year-old Ecuadorian male, previously diagnosed with cone-rod dystrophy, presented for a second opinion after experiencing subjective bilateral rapid vision loss over an 18-day period, 4 months prior to consultation. Visual acuity was initially light perception in both eyes. Fundus examination revealed bilateral disc pallor, vascular attenuation, and retinal pigment epithelium atrophy. Electroretinogram showed minimal photopic response and no flicker nor scotopic responses in both eyes. At first, the patient demonstrated normal neurodevelopment. However, over the next 5 years, he developed severe neuromotor limitations and his vision progressed to no light perception in both eyes. Whole-exome sequencing detected CLN3 (p.Gly190Arg) and ABCA4 (p.Phe1026Leu) variant mutations. To the best of our knowledge, this is the first report describing a patient with simultaneous CLN3 and ABCA4 mutations, associated with juvenile Batten disease and inherited diseases of retinal degeneration, respectively