EPOS

European Paediatric Ophthalmological Society

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06 EPOG: No strabismus please! But what about genetics of squint?

Moore, A.T.
Institute of Ophthalmology UCL, and Moorfields Eye Hospital, London, UK

A positive family history is a strong risk factor for the development of childhood strabismus, particularly esotropia. Little is known of the underlying genotype that is associated with the increased risk but research in this area is at an early stage. Although a few families may show true Mendelian inheritance in most cases the molecular genetic mechanism is likely to be more complex. It will be a major challenge to identify the genetic variation underlying comitant strabismus.

Some forms of incomitant strabismus also have a strong genetic component. A few uncommon forms of incomitant strabismus show clear autosomal or mitochondrial inheritance. Ocular fibrosis syndrome may show autosomal dominant or autosomal recessive inheritance and there is evidence of genetic heterogeneity within the different genetic subtypes. Progressive external ophthalmoplegia may be associated with mutations of mitochondrial, DNA. Other forms of incomitant strabismus such as that seen in Duane's syndrome, Moebius syndrome, Brown's syndrome, superior oblique palsy and the cranio-facial malformations have a strong genetic component and there has been some progress in mapping the underlying genetic mutations.

This talk will review current genetic loci that are associated with strabismus and will discuss possible approaches to mapping disease susceptibility loci in childhood strabismus.