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Original Investigation | Clinical Sciences

Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia

Brian G. Mohney, MD1; Ryan C. Young, MD2; Nancy Diehl, BS3
[+] Author Affiliations
1Department of Ophthalmology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota
2College of Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minnesota
3Division of Biostatistics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota
JAMA Ophthalmol. 2013;131(7):898-902. doi:10.1001/jamaophthalmol.2013.65.
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Importance  Optic nerve hypoplasia (ONH) is an increasingly recognized cause of congenital blindness in children; however, there is significant discord regarding its incidence and the rate of associated conditions.

Objective  To determine the incidence of ONH and the rate of associated endocrine, neurologic, and developmental abnormalities among a population-based cohort of pediatric patients.

Design  Retrospective, population-based study.

Setting  Olmsted County, Minnesota (95.7% white in 1990).

Participants  All pediatric residents (aged <19 years) of Olmstead County, diagnosed as having ONH from January 1, 1984, through December 31, 2008.

Main Outcomes and Measures  Incidence of ONH and the rate of associated endocrine, neurologic, and developmental abnormalities.

Results  Optic nerve hypoplasia was diagnosed in 19 pediatric patients during the 25-year study period, for an annual incidence of 2.4 (95% CI, 1.2-3.5) per 100 000 residents younger than 19 years or 1 in 2287 live births. The mean age at diagnosis was 2.1 years, and 10 (53%) patients were male. Commonly associated perinatal conditions included primiparity in 8 patients (42%), premature birth in 6 (32%), and maternal diabetes mellitus in 3 (16%). Of the 19 study patients, 16 (84%) had bilateral involvement at initial examination, 9 (47%) had decreased visual acuity, 8 (42%) had strabismus, and 5 (26%) had nystagmus. Systemic conditions included developmental delay in 12 (63%), neurologic deficits in 10 (53%), and endocrine dysfunction in 5 (26%).

Conclusions and Relevance  This population-based study demonstrated an incidence of ONH of 1 in 2287 live births. More than half of the patients had developmental and neurologic deficits, and one-fourth had a diagnosis of endocrine dysfunction.

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