Abstract

P 063

Septo-optic dysplasia / DeMorsier syndrome – a retrospective ophthalmologic and neuro-endocrinically clinical trial

Stuhlfelder K. P.¹, Dörr H. G.², Bergua A.^1
1Klinik für 1Augenheilkunde und ²Kinderklinik der Friedrich-Alexander Universität Erlangen-Nürnberg

Objective: Septo-optic dysplasia (SOD) is a disease of so far unknown aetiology and high phenotypical variability. It is part of the so-called midline defects. Neuroendocrinically and ophthalmologic symptoms as well as the agenesia of septum pellucidum belong to the diagnostic findings. Ophthalmologic diagnostics include hypoplasia of the optic nerve with micropapilla and nystagmus. Neuro-endocrinically deficiency affect the hypothalamo-pituitary hormone axis.
Methods: Our patient population consisted of six girls and four boys, all examined between 1992-2006 in our paediatric and ophthalmic clinic. According to the records there were evaluated the date of diagnosis, the progress of the disease and examinations, like radiological staging, ophthalmologic (re-)evaluation and neuro-endocrinically testing.
Results: In 80% (8/10) the diagnosis SOD was confirmed in the first year of life. 40% (4/10) were diagnosed via MRI-findings of the optic nerve and the septum pellucidum, 30% (3/10) by ophthalmologic and also 30% by endocrinically symptoms. A hypoplasia of the optic nerve and nystagmus were each found in 80% (8/10). Various postnatal complications like hypoglycaemia appeared in 40% (4/10), icterus prolongatus in 70% (7/10) and apnoea in 60% (6/10).
Conclusions: The suspicion of SOD and its confirmation can be earlier diagnosed by further evaluation of ophthalmologic abnormalities. Therefore it makes sense to think of this option in the case of ocular findings (e.g. micropapilla) in the newborn and infant period in order to add neuro-endocrinically examination.

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