alexa Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia
Clinical Research

Clinical Research

Journal of Clinical Case Reports

Author(s): Brian G Mohney, Ryan C Young, Nancy Diehl

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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. Optic nerve hypoplasia (ONH) is one of the leading causes of childhood blindness and visual impairment in the United States.1 It is a nonprogressive congenital disease characterized histologically by a subnormal number of optic nerve axons in the optic nerve tracts resulting in small, pale optic discs.2 Optic nerve hypoplasia often occurs in association with a number of clinically important endocrine and central nervous system abnormalities as part of a spectrum of diseases known as septo-optic dysplasia, a congenital syndrome involving developmental abnormalities of the optic nerves, midline brain structures, and cerebral hemispheres.3,4 Developmental delays are a common occurrence in children with ONH as well and encompass a wide spectrum from mild communication delays to profound motor and global delays.5 Optic nerve hypoplasia has been an increasingly recognized cause of congenital blindness in children during the past 30 years. In 1981, Acers3 estimated the incidence of ONH to be 2 per 100 000 residents. More recently, the incidence of ONH in Sweden has been estimated at 6.3 per 100 000,6 and incidence estimates in England had risen to 10.9 per 100 000 in 2006.7 However, there are no known incidence reports of ONH in North America. The purpose of this study was to determine, using a medical record retrieval system, the incidence and associated endocrine and neurologic abnormalities observed in a population-based cohort of patients younger than 19 years with a diagnosis of ONH.

This article was published in JAMA Ophthalmology and referenced in Journal of Clinical Case Reports

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