Visually impaired children with posterior ocular malformations: pre‐ and neonatal data and visual functions

Abstract

ABSTRACT.Aim: To analyse pre-and neonatal data and ocular findings in children with visual impairment caused by posterior ocular malformations. Methods: Medical records were scrutinized, dried blood spot cards were analysed for virus DNA and ophthalmological assessments were performed in 28 children with optic nerve hypoplasia (ONH) and 10 with optic/chorio-retinal coloboma. Results: Prenatal exposure to possible teratogens was documented in 5/28, herpes simplex virus type 1 DNA was identified in the dried blood spot cards of 1/26 children and neonatal hypoglycaemia in 12/28 children with ONH. The time delay from ocular to endocrinological diagnosis and treatment was 3 years. Children with ONH and severe visual impairment had endocrinopathy more often (11/13) than ONH children with better visual functions (5/15). Prenatal exposure to teratogens or neonatal hypoglycaemia was not identified in any of the children with coloboma. Conclusion: Neonatal hypoglycaemia was common in children with ONH. Severe visual impairment predicted endocrinopathy. Analysis of dried blood spot cards could serve as an additional diagnostic tool in children with ocular malformations.

Prenatal determinants of optic nerve hypoplasia: Review of suggested correlates and future focus

“…21 The rarity of CMV exposure was further demonstrated when a systematic search for virus DNA using metabolic screening cards on 26 cases of ONH and found no positive results for CMV. 19 …”

“…57; 63 Although ONH may be common in children with FAS, prenatal alcohol exposure was infrequently identified in other studies on ONH (Table 2). 12; 19; 59 including two epidemiologic studies using standardized assessment compared to population birth data. 21; 47; 69 …”

Occipital Lobe Injury and Cortical Visual Outcomes After Neonatal Hypoglycemia

“…Previous reports found optic nerve hypoplasia associated with neonatal hypoglycemia. 28 Although there was no significant association between overall parietooccipital lobe diffusion restriction and cortical visual deficits, subset analysis of subjects with diffusion restriction specifically involving the calcarine cortex demonstrated significant correlation with visual deficits in follow-up evaluations. The location of injury is in keeping with the neuroanatomic location of the calcarine cortex for primary vision.…”

Nordic research in ophthalmology

“…In the Nordic countries 12–32% of all visually impaired children are born prematurely. In addition to retinal disease, affection of optic nerves, posterior visual pathways and areas for higher processing of visual information has become more apparent (Fahnehjelm et al 2003a).…”