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Posterior ocular malformations in children: somatic, neuroradiological and cognitive aspects
K Teär Fahnehjelm1, K Wide, O Flodmark
1Department of Clinical Science, Division of Paediatric Ophthalmology, Karolinska Institutet, Huddinge University Hospital, Stockholm, Sweden. kristina.fahnehjelm@klinvet.ki.se
Insights
Children with optic nerve hypoplasia show more neurological and endocrinological issues than those with coloboma. Abnormal pituitary imaging predicts hormone deficiencies in optic nerve hypoplasia cases.
Area of Science:
- Ophthalmology
- Pediatric Neurology
- Endocrinology
Background:
- Visual impairment in children can stem from optic nerve hypoplasia or coloboma/microphthalmus.
- These conditions may be associated with broader neurological, endocrinological, and cognitive deficits.
Purpose of the Study:
- To investigate and compare neurological, endocrinological, and cognitive dysfunctions in children with visual impairment due to optic nerve hypoplasia versus optic nerve/fundus coloboma and/or microphthalmus.
Main Methods:
- Retrospective analysis of 40 children born between 1990-1998.
- Assessment included neurological examination, neuroradiological review, medical record analysis, and cognitive level evaluation.
Main Results:
- Neurological dysfunctions (epilepsy, motor impairment) were more prevalent in optic nerve hypoplasia (13/28) than coloboma (3/12).
- Optic nerve hypoplasia cases frequently showed thin optic pathways (22/24), abnormal pituitary/infundibulum (16/22), and absence of septum pellucidum (14/27).
- Endocrinological deficiencies were observed in 13/16 children with optic nerve hypoplasia and abnormal pituitary regions; mental retardation was also noted in both groups.
Conclusions:
- Optic nerve hypoplasia is associated with a higher incidence of endocrinological, neurological, and neuroradiological defects compared to coloboma.
- Abnormalities in the pituitary region on MRI are predictive of endocrinological deficits in children with optic nerve hypoplasia.
Aim:
To investigate associated neurological, endocrinological and cognitive dysfunctions in children with visual impairment caused by optic nerve hypoplasia or optic nerve/fundus coloboma and/or microphthalmus.
Methods:
Forty children born between 1990 and 1998 were assessed by neurological examination, re-evaluation of neuroradiological investigations, review of medical records and examination of cognitive levels.
Results:
Neurological dysfunctions (epilepsy and/or motor impairment) were found in 13/28 children with optic nerve hypoplasia and in 3/12 children with coloboma/microphthalmus. The optic pathways were thin in 22/24, an abnormal posterior pituitary gland and/or thin infundibulum was found in 16/22 and absence of septum pellucidum in 14/27 children with optic nerve hypoplasia. Other types of cerebral abnormalities occurred in 9/26 children. Among children with coloboma/microphthalmus, the optic pathways were thin in 4/8 children but none had pituitary or cerebral midline abnormalities. Sixteen children with optic nerve hypoplasia were receiving hormone substitution but none of the children with coloboma/microphthalmus. Thirteen of the 16 children with optic nerve hypoplasia and with an abnormal pituitary region had endocrinological deficiencies. Mental retardation was found in 9/24 of the children with optic nerve hypoplasia and in 5/10 of the children with coloboma/microphthalmus.
Conclusion:
Endocrinological. neurological and neuroradiological defects seem more common in children with optic nerve hypoplasia than in children with coloboma. A pituitary region that appears abnormal in magnetic resonance imaging seems to predict endocrinological deficits in children with optic nerve hypoplasia.