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Published on: September 22, 2017
Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia
Brian G Mohney1, Ryan C Young, Nancy Diehl
1Department of Ophthalmology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA. mohney@mayo.edu
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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