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Antonio Bergua, Helmuth Doerr, Konstanze Stuhlfelder; Ophthalmologic and neuroendocrinologic findings in children with septo-optic dysplasia. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1212.
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Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare disease of so far unknown etiology and high phenotypical variability. It is part of the so-called midline defects. Ophthalmologic and neuroendocrinologic abnormalities as well as the agenesis of septum pellucidum are part of the reported findings. Ophthalmologic manifestations include conditions, such as optic nerve hypoplasia, reduced visual acuity, and nystagmus. In this observational study, we aimed to describe and correlate the ophthalmologic and endocrinologic as well as the neuroradiologic findings in SOD patients and to provide a long-term follow-up
Our patient population includes six girls and four boys with SOD (mean age by the first diagnosis: 2,7 years), all examined between 1992-2010 in the departments of paediatrics and ophthalmology of the university Erlangen-Nuremberg. All patients underwent standardized ophthalmologic and paediatric examination as well as magnetic resonance imaging (MRI). Neuroendocrinologic parameters determination, such as growth hormone levels, was also performed.
In 80 % (8/10) of the patients, the diagnosis of SOD was confirmed in the first year of life. 50% (5/10) were diagnosed via MRI-findings of the optic nerve and the septum pellucidum, 30% (3/10) by ophthalmologic clinical examination and 20% (2/10) by endocrinological signs and 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 56% (5/9). Endocrinologic abnormalities (e.g. growth hormone deficiency) and neuroradiologic findings could be observed and monitored in different intensities in all children.
Although SOD is a rare, heterogeneous condition, systematic ophthalmologic and neuroendocrinologic examination allow early diagnosis of both visual impairment and pituitary hormone abnormalities associated to optic nerve hypoplasia and brain midline defects in children. Therefore, these patients need appropriate neuropaediatric and ophthalmologic follow-up as well as early therapy and rehabilitation.
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