Optic nerve hypoplasia in North America: a re‐appraisal of perinatal risk factors

Abstract

Purpose The purpose of this study is to describe and clarify the birth and prenatal characteristics of a large cohort of children with optic nerve hypoplasia. Methods This is a descriptive report of 204 patients aged ≤ 36 months and enrolled in a prospective study at the Children’s Hospital Los Angeles. Birth characteristics, including complications, were abstracted from study files and medical records. Systematic maternal interviews were conducted to obtain detailed prenatal histories. National birth data were used for comparison with birth findings. Results Birth characteristics were unremarkable for birthweight and gestation, but significant for increased frequency of caesarean delivery and fetal and neonatal complications. Young maternal age and primaparity were dominating maternal features. Preterm labour, gestational vaginal bleeding, low maternal weight gain and weight loss during pregnancy were prevalent. Conclusions These findings confirm young maternal age and primaparity as associated risk factors, challenge many other suggested factors such as alcohol and drug abuse, and introduce potentially significant prenatal characteristics such as maternal weight loss and early gestational vaginal bleeding as aetiological correlates.

Septo-Optic Dysplasia: Antenatal Risk Factors and Clinical Features in a Regional Study

“…A Swedish study in optic nerve hypoplasia performed by Tornquist et al [26] demonstrated increased maternal smoking, young maternal age, preterm delivery and first parity as risk factors for optic nerve hypoplasia, whereas Garcia-Filion et al [13] demonstrated reduced maternal age, primiparity and increased caesarean section rate.…”

“…When compared to previous epidemiological studies, this represents the largest cohort of SOD patients (n = 88), as many other cohorts also include optic nerve hypoplasia along with SOD [6,13,25]. We maximised ascertainment by systematically investigating all patients with optic nerve hypoplasia and also MPHD.…”

“…Few previous studies of children with SOD have assessed antenatal and perinatal risk factors in detail and studies which have often included patients with optic nerve hypoplasia alone [6,13,26]. A Swedish study in optic nerve hypoplasia performed by Tornquist et al [26] demonstrated increased maternal smoking, young maternal age, preterm delivery and first parity as risk factors for optic nerve hypoplasia, whereas Garcia-Filion et al [13] demonstrated reduced maternal age, primiparity and increased caesarean section rate.…”

“…Most studies, however, of this condition have been either unselected case reports or series, which will produce bias, or have included patients with optic nerve hypoplasia alone [6,13]. Over the last decade, we have systematically investigated all cases of SOD and its spectrum within a defined geographical area.…”

Absence of age-related optic disk changes in young children with optic nerve hypoplasia

“…In addition, premature infants (average gestational age 30.1±4.7 weeks) comprised the majority of De Silva's patient sample from a neonatal intensive care unit. Prematurity, uncommon in ONH (11%), 15 was present in just under 7% (n ¼ 1) of our study sample. Contrary to our study methods, the findings by De Silva et al 6 were not based on repeat measurements within the same subjects or at different time points; rather, the infants' measurements were compared with normal adult measurements, despite the cohort's prematurity.…”