Fahnehjelm Kristina Teär, Jacobson Lena, Hellström Ann, Lewensohn-Fuchs Ilona, Ygge Jan
Department of Paediatric Ophthalmology, B-54 Karolinska Institute, Huddinge University Hospital, S-141 86 Stockholm, Sweden.
Acta Ophthalmol Scand. 2003 Aug;81(4):361-72. doi: 10.1034/j.1600-0420.2003.00100.x.
To analyse pre- and neonatal data and ocular findings in children with visual impairment caused by posterior ocular malformations.
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.
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.
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.
分析后部眼部畸形所致视力障碍儿童的产前及新生儿期数据和眼部检查结果。
对28例视神经发育不全（ONH）患儿和10例视神经/脉络膜视网膜缺损患儿的病历进行了仔细审查，分析干血斑卡片中的病毒DNA，并进行眼科评估。
28例中有5例记录了产前暴露于可能的致畸物，26例患儿的干血斑卡片中1例检测出单纯疱疹病毒1型DNA，28例ONH患儿中有12例出现新生儿低血糖。从眼部诊断到内分泌诊断和治疗的时间延迟为3年。ONH且视力严重受损的患儿内分泌病发生率（11/13）高于视力较好的ONH患儿（5/15）。在任何一例脉络膜缺损患儿中均未发现产前暴露于致畸物或新生儿低血糖。
新生儿低血糖在ONH患儿中很常见。严重视力障碍预示着内分泌病。干血斑卡片分析可作为眼部畸形患儿的一种辅助诊断工具。
