Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.

INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.

This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.

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

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.

Ophthalmological findings in infants with microcephaly and presumable intra-uterus Zika virus infection / Achados oftalmológicos em lactentes com microcefalia e infecção presumida pelo vírus Zika

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.

RESUMO Introdução: No ano de 2015, foi identificado no Brasil um aumento da prevalência de microcefalia em vinte vezes. Esta malformação foi associada pelo Ministério da Saúde à transmissão vertical do Zika vírus (ZIKV). Método: Investigamos dez lactentes com diagnóstico clínico presumido de microcefalia relacionada à ZIKV, que apresentavam anormalidades oculares, nascidos entre maio e dezembro de 2015. Resultados: Sete mães (70,0%) relataram sintomas (mal-estar, rash e artralgia) durante a gestação, sendo seis (85,7%) no primeiro trimestre. No dia da avaliação nenhuma alteração ocular foi identificada nas mães e elas não relataram sintomas oculares durante a gestação. Sorologia foi negativa para toxoplasmose, rubéola, citomegalovírus, sífilis e vírus da imunodeficiência adquirida (HIV) em todos os lactentes. Os achados oculares incluíram alterações maculares (depósito pigmentar grosseiro e/ou atrofia coriorretiniana) em 15 olhos (75,0%) e alterações do nervo óptico (hipoplasia do disco com sinal do duplo anel, palidez e/ou aumento da escavação papilar) em nove olhos (45,0%). Conclusões: Os pacientes apresentaram segmento anterior normal e importantes e anormalidades maculares e do nervo óptico. Estudos futuros vão avaliar a importância destas alterações visuais.