EPOS

European Paediatric Ophthalmological Society

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39 Molecular control of the development of the visual system

Thanos, S.¹, Stoll, S.¹, Püttmann, S.²,, ,
Dept. of Experimental Ophthalmology, Institute of Neuropathology, University of Münster, Germany,

Purpose: Eye development is controlled by hierarchically organized genes operating throughout the different stages of morphogenetic development connectivity with the brain and functional modulation. This study was performed to identify some of the genes involved in regular formation of the visual system, particularly in chicken.

Methods: The methodology includes transfection experiments, in situ-hybridization, immunohistochemistry and neuroanatomical tracing.

Results: Paired-box genes (Pax) seem responsible for determining the formation of eye cup at very early stages of primary vesicle and optic cup while Pay-6 is associated with malformations or aplasia. Retinofugal axon guidance within the optic stalk and chiasm is controlled by Pax-2. Besides of Pax-Genes numerous genes have been described to influence development of both the eye and the optic pathway. Among others CBF1, CBF2, Otx, RADH2, Ephrins and Ephrin receptors determine the events of establishing retinal specificity. The brain counterparts are marked by graded distributions of molecules acting in a fashion that is reciprocal to retinal distributions. FGF8 controls in the diencephalon a number of factors like engrailed and toponymic molecules which guide axons to their correct sites of projection.

Conclusion: Our knowledge on this complex cascade of molecular paving is extremely enriched by the advent of knock-out animal models that will also be discussed. The data are valuable to understand a number of malformations caused by genetic disturbances.