The clinical and morphologic spectrum of optic nerve hypoplasia

Purpose: The purpose of this study was to characterize the clinical and mor phologic spectrum of all children referred for optic nerve hypoplasia to a tertiary referral hospital in Sweden during a 9-year period. Subjects and M ethods: A retrospective review was undertaken of the charts of 117 children (age range, 0.25-16 years), treated at the Children's Hospital, Goteberg b etween 1988 and 1996, after the diagnosis of optic nerve hypoplasia. Ocular fundus morphologic condition was evaluated by digital image analysis of fu ndus photographs in 50 children, and neuroimaging was performed in 57 child ren. Results: Of the 117 children with optic nerve hypoplasia, 66 (56%) wer e boys and 51 (44%) were girls. Preterm birth occurred in 24 (20%), and 14( 12%)were born small for gestational age. Additional diagnoses, such as feta l alcohol syndrome, septo-optic dysplasia, perinatal adverse events, and ne uropsychiatric disorders, were made in 88%; 7% had unilateral optic nerve h ypoplasia. Most of the children had small optic disc, cup, and neuroretinal rim areas, as well as retinal vascular abnormalities; 75% were visually im paired, and a high incidence of nystagmus and strabismus was found among th ese children. Conclusion: This study indicates that optic nerve hypoplasia has a wide clinical and morphologic spectrum and is associated with a broad range of disorders of the central nervous system. It is suggested that dif ferences in the etiology and timing of the lesion as well as associated les ions may explain this spectrum of optic nerve hypoplasia in children.