Optic Nerve Hypoplasia | ROQUE Eye Clinic | Eye.com.ph
    ROQUE Eye Clinic Featured Image Optic Nerve Hypoplasia

    ROQUE Eye Clinic Featured Image Optic Nerve Hypoplasia

    What is optic nerve hypoplasia? How is it acquired?

    Optic nerve hypoplasia is the most common optic disc anomaly. It is due to a supranormal regression of the optic nerve axons that starts before birth. It is non-progressive and may affect one or both optic discs. The spectrum of its clinical presentation is broad. Most bilateral cases will present with ophthalmic abnormalities such as poor vision and wobbly eyes (nystagmus). Unilateral cases present with strabismus because the affected eye tends to drift. Others would present with neurologic deficits or endocrine dysfunction. Although it may be sporadic, several teratogens have been implicated, including phenytoin, quinine, LSD, phencyclidine, alcohol, intrauterine infection, cytomegalovirus, maternal diabetes.

    How is this condition diagnosed? Are there any imagings necessary to confirm the diagnosis?

    The gold standard for its diagnosis is thru indirect ophthalmoscopy. The optic disc appears small and is surrounded by a ring of hypopigmentation, constituting the “double ring sign” that is the hallmark of this condition. Neuroimaging is recommended, particularly MRI, to document the presence of associated abnormalities in the brain. The presence of these abnormalities may aid in identifying patients that are more prone to hormonal imbalance. These children should be co-managed by a pediatrician once identified.

    What is the visual prognosis associated with it?

    The visual potential is determined by the integrity of the central retinal axons and does not necessarily correlate with the size of the optic disc.

    Are there any systemic conditions associated with it?

    Optic nerve hypoplasia, particularly the bilateral form, is associated with multiple brain malformations, including absence of the septum pellucidum, hypoplasia or agenesis of the corpus callosum, dysplasia of the anterior third ventricle, and anomalies of the hypothalamic-pituitary axis. Adrenal crisis and hypopituitarism may lead to sudden death.

    Is there any treatment available?

    The endocrine abnormalities associated with optic nerve hypoplasia are treatable, and an endocrine work-up, including provocative tests, should be obtained. Patients with optic nerve hypoplasia and hypopituitarism may require supplemental corticoteroids during times of stress. However, there is no specific treatment for the optic nerve anomaly.

    Optic Nerve Anatomy Slideshow

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    1. Birkebaek et al. Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature. J Pediatr; October 2004; 145: 536-541.
    2. Birkebaek et al. Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging. J Clin Endocrinol Metab; November 2003; 88: 5281-5286.

    Dr. Barbara Roque
    Dr. Barbara Roque
    Dr. Barbara Roque is a an ophthalmologist whose practice includes general ophthalmology (which includes cataract surgery) with subspecialty work in pediatric ophthalmology, strabismus and ophthalmic genetics.
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