Clinical and demographic associations with optic nerve hypoplasia in New Zealand

ObjectiveEarly detection of ocular abnormalities in newborn infants is essential for timely diagnosis and treatment. This study aimed to assess wide-field digital imaging for universal newborn eye screening (UNES) to determine the prevalence of ocular abnormalities, including retinal haemorrhages, in newborn infants in New Zealand.DesignProspective ocular screening study of infants.SettingA public hospital maternity ward and a community birth centre in Auckland, New Zealand.PatientsA total of 350 infants were enrolled in UNES, those with birth weight <1250 g or gestational age <30 weeks were excluded.MethodsWide-field digital images of the external eye and retina were captured by RetCam (Natus Medical, San Carlos, California, USA) and reviewed by an ophthalmologist via an established telemedicine methodology.Main outcome measuresDetection of ocular abnormalities, including retinal haemorrhages. Correlation between haemorrhages and maternal, obstetric and neonatal factors.ResultsA total of 346 infants completed screening (median age 2 days). Retinal haemorrhages were present in 50 cases (14.5%), two cases exhibited persistent retinal haemorrhages at 6-week follow-up. A significant increase in the odds of retinal haemorrhages was present for vaginal delivery compared with caesarean section. Other ocular abnormalities, including congenital cataract and optic nerve hypoplasia, were present in 1.4% of infants.ConclusionsOcular abnormalities were detected by UNES including congenital cataract and optic nerve hypoplasia. However, retinal haemorrhages, significantly associated with delivery modality, were the most common abnormality detected. The majority of retinal haemorrhages resolved spontaneously.

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Septo-optic dysplasia, multiple pituitary hormone deficiency and optic nerve hypoplasia: clinical and neuroradiological characteristics

Endocrine Abstracts ◽

10.1530/endoabs.36.p76 ◽

2014 ◽

Author(s):

Maria Guemes ◽

Manuela Cerbone ◽

Tessa Kasia ◽

Louise Gregory ◽

Mehul Dattani

Keyword(s):

Optic Nerve ◽

Optic Nerve Hypoplasia ◽

Hormone Deficiency ◽

Pituitary Hormone ◽

Multiple Pituitary Hormone Deficiency ◽

Pituitary Hormone Deficiency

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Unilateral optic nerve hypoplasia in a case of septo-optic dysplasia

Journal Français d Ophtalmologie ◽

10.1016/j.jfo.2020.08.015 ◽

2021 ◽

Author(s):

R. El Hachimi ◽

S. Benchekroun ◽

R. El Hadiri ◽

L.O. Cherkaoui

Keyword(s):

Optic Nerve ◽

Optic Nerve Hypoplasia

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Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

Viruses ◽

10.3390/v13010001 ◽

2020 ◽

Vol 13 (1) ◽

pp. 1

Author(s):

Andréia Veras Gonçalves ◽

Demócrito de B. Miranda-Filho ◽

Líbia Cristina Rocha Vilela ◽

Regina Coeli Ferreira Ramos ◽

Thalia V. B. de Araújo ◽

...

Keyword(s):

Optic Nerve ◽

Viral Infections ◽

Case Series ◽

Optic Nerve Hypoplasia ◽

Endocrine Dysfunction ◽

Careful Monitoring ◽

Early Puberty ◽

Growth Impairment ◽

Appropriate Treatment ◽

The Brain

Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of endocrine dysfunction in Zika-related microcephaly. In this case series we ascertained the presence and describe endocrine dysfunction in 30 children with severe Zika-related microcephaly from the MERG Pediatric Cohort, referred for endocrinological evaluation between February and August 2019. Of the 30 children, 97% had severe microcephaly. The average age at the endocrinological consultation was 41 months and 53% were female. The most frequently observed endocrine dysfunctions comprised short stature, hypothyroidism, obesity and variants early puberty. These dysfunctions occurred alone 57% or in combination 43%. We found optic nerve hypoplasia (6/21) and corpus callosum hypoplasia (20/21). Seizure crises were reported in 86% of the children. The most common—and clinically important—endocrine dysfunctions were pubertal dysfunctions, thyroid disease, growth impairment, and obesity. These dysfunctions require careful monitoring and signal the need for endocrinological evaluation in children with Zika-related microcephaly, in order to make early diagnoses and implement appropriate treatment when necessary.

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