title: Systemic and ocular findings in 100 patients with optic nerve hypoplasia.
abstract: To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies were obtained in 65 cases. Visual acuity and associated ocular, neurologic, endocrine, systemic, and structural brain abnormalities were recorded. Seventy-five percent had bilateral optic nerve hypoplasia. Conditions previously associated with optic nerve hypoplasia and present in our patients include premature birth in 21%, fetal alcohol syndrome in 9%, maternal diabetes in 6%, and endocrine abnormalities in 6%. Developmental delay was present in 32%, cerebral palsy in 13%, and seizures in 12%. Of those imaged, 60% had an abnormal study. Neuroimaging showed abnormalities in ventricles or white- or gray-matter development in 29 patients, septo-optic dysplasia in 10, hydrocephalus in 10, and corpus callosum abnormalities in 8. There was an associated clinical neurologic abnormality in 57% of patients with bilateral optic nerve hypoplasia and in 32% of patients with unilateral optic nerve hypoplasia. Patients with unilateral and bilateral optic nerve hypoplasia frequently have a wide range and common occurrence of concomitant neurologic, endocrine, and systemic abnormalities.
authors.affiliation: Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic Foundation, OH 44195, USA.
authors.forename: M Lourdes
authors.initials: ML
authors.lastname: Garcia
authors.forename: Edna B
authors.initials: EB
authors.lastname: Ty
authors.forename: Mehryar
authors.initials: M
authors.lastname: Taban
authors.forename: A
authors.initials: A
authors.lastname: David Rothner
authors.forename: Douglas
authors.initials: D
authors.lastname: Rogers
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology*; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002547:Cerebral Palsy / Q000209:etiology / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology / Q000473:pathology; D016640:Diabetes, Gestational / Q000473:pathology; D004700:Endocrine System Diseases / Q000209:etiology / Q000473:pathology; D004827:Epilepsy / Q000209:etiology / Q000473:pathology; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D009901:Optic Nerve Diseases / Q000209:etiology / Q000473:pathology*; D011247:Pregnancy; D012189:Retrospective Studies; D012688:Septum Pellucidum / Q000002:abnormalities; D014786:Vision Disorders / Q000209:etiology / Q000473:pathology*