June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
The Prenatal, Ophthalmologic and Neurologic Profile in Patients with Optic Nerve Hypoplasia and Septo-Optic Dysplasia
Author Affiliations & Notes
  • Abraham Anaya-Olvera
    Asociacion Para Evitar la Ceguera en Mexico (APEC), Mexico, Mexico
  • Jans Fromow-Guerra
    Asociacion Para Evitar la Ceguera en Mexico (APEC), Mexico, Mexico
  • Virgilio Morales-Canton
    Asociacion Para Evitar la Ceguera en Mexico (APEC), Mexico, Mexico
  • Cristina Villanueva-Mendoza
    Asociacion Para Evitar la Ceguera en Mexico (APEC), Mexico, Mexico
  • Footnotes
    Commercial Relationships Abraham Anaya-Olvera, None; Jans Fromow-Guerra, None; Virgilio Morales-Canton, Clearside Biomedical (F); Cristina Villanueva-Mendoza, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1211. doi:
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      Abraham Anaya-Olvera, Jans Fromow-Guerra, Virgilio Morales-Canton, Cristina Villanueva-Mendoza; The Prenatal, Ophthalmologic and Neurologic Profile in Patients with Optic Nerve Hypoplasia and Septo-Optic Dysplasia. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1211.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: The objective of this study was to describe the prenatal associated factors and the clinical and neuroradiologic spectrum in patients with ONH and SOD.

Methods: A retrospective chart review of patients with ONH for prenatal data, ophthalmologic evaluation, neurologic, radiologic and endocrine abnormalities was performed. The following prenatal factors were studied: maternal age, diseases, drugs, smoking, and alcohol consumption; parity and prematurity.

Results: We reviewed 47 patients (55% female). The mean age at diagnosis was 34 months Primiparity was found in 65.9%, young maternal age in 8.5%, prematurity in 6.5%, sedatives in 4.2%, diabetes mellitus in 4.2%, and recreational drugs in 2.1%. We found low vision or legal blindness in 95.7%, nystagmus in 66%, strabismus in 34%, relative afferent pupillary defect in 25.5%, tortuosity of the retinal vasculature in 17% and the presence of a double-ring sign was recorded in 14.9%. We observed mental retardation in 17% and seizures in 4.2%. Of the 22 patients imaged, 10 had absence of septum pellucidum, 8 had corpus callosum hypoplasy and 3 pituitary abnormalities. Two cases had growth hormone and antidiuretic hormone deficiency. Septo-optic dysplasia was diagnosed in 25.5%.

Conclusions: Patients with ONH usually have low vision and nystagmus; they may also have neurological abnormalities. All patients must have cerebral magnetic resonance in order to diagnose septo-optic dysplasia. Management is multidisciplinary including early rehabilitation.

Keywords: 613 neuro-ophthalmology: optic nerve • 459 clinical (human) or epidemiologic studies: biostatistics/epidemiology methodology  
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