Brian G Mohney1, Ryan C Young, Nancy Diehl. 1. Department of Ophthalmology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA. mohney@mayo.edu
Abstract
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.
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.
Authors: Niels Holtum Birkebaek; Leena Patel; Neville Bryce Wright; John Russell Grigg; Smeeta Sinha; Catherine Margaret Hall; David Anthony Price; Ian Christopher Lloyd; Peter Ellis Clayton Journal: J Pediatr Date: 2004-10 Impact factor: 4.406
Authors: N H Birkebaek; L Patel; N B Wright; J R Grigg; S Sinha; C M Hall; D A Price; I C Lloyd; P E Clayton Journal: J Clin Endocrinol Metab Date: 2003-11 Impact factor: 5.958
Authors: Bernd Schmitz; Torsten Schaefer; Christoph M Krick; Wolfgang Reith; Martin Backens; Barbara Käsmann-Kellner Journal: Invest Ophthalmol Vis Sci Date: 2003-01 Impact factor: 4.799
Authors: Daphne McCulloch; Pamela Garcia-Filion; Cassandra Fink; Anthony C Fisher; Antonio Eleuteri; Mark S Borchert Journal: Doc Ophthalmol Date: 2017-08-09 Impact factor: 2.379
Authors: Linda K McLoon; Christy L Willoughby; Jill S Anderson; Erick D Bothun; David Stager; Joost Felius; Helena Lee; Irene Gottlob Journal: Invest Ophthalmol Vis Sci Date: 2016-04-01 Impact factor: 4.799