1. Summary of programme area and objectives

1.1 Paediatric ophthalmology is a subspecialty that encompasses a very broad group of eye disorders. It is difficult given the breadth of the specialty to decide on research priorities. There are wide areas of overlap with disease affecting adults and many current areas of research such as molecular genetics, wound healing, stem cell biology and tissue transplantation are important to all areas and will not be considered here. In addition strabismus and amblyopia forms a separate programme.

Research priorities

1.2 Epidemiological and Service Issues

1.2.1 Epidemiology of childhood visual impairment - understanding the extent and the causes of childhood visual impairment
1.2.2 Effects of childhood visual impairment : educational, emotional and social
1.2.3 Visual rehabilitation

1.3 Clinical and Laboratory Issues

1.3.1 Inherited eye disease
· identification of disease causing mutations,
· investigation of disease mechanisms,
· development of novel treatment strategies

1.3.2 Brain injury and visual impairment
· multidisciplinary research to understand the mechanism of brain injury
· investigation of visual development and visual performance in brain injured children

  2. Programme plan

2.1 Epidemiology - It is important as a starting point in planning research strategies to have good information about the major causes of childhood visual impairment. Similarly in planning screening and treatment programmes it is important to have good information about the prevalence and incidence of childhood disorders. There have been few good epidemiological studies in this area. Epidemiology is an important area of ophthalmology research, which needs to be encouraged and supported and should have a high priority.

2.2 Inherited eye disease - 40-50% of childhood blindness is due to inherited eye disease. The inherited retinal dystrophies are the most important group of disorders. Current research is focussed on mapping causative genetic mutations, identifying the effects of specific mutations on the eye and thereby improving understanding of disease mechanisms. Research priorities for the next five years should involve: -

2.2.1 Identification of genetic mutations causing eye disease - this will include identifying the genetic basis of monogenic disorders and also the identification of the genotypes which are associated with increased risk of developing polygenic disorders such as refractive errors and strabismus.

2.2.2 Exploring disease mechanisms - this will require a multifaceted approach which would include the investigation of protein function in vitro, the study of transgenic animal models of human disease and careful phenotypic studies of children with known genetic mutations. The latter studies will be dependent on detailed electrophysiological and psychophysical testing and novel methods of imaging ocular structures.

2.2.3 Identification of novel treatment strategies - the major focus will be to identify treatments for inherited retinal dystrophies a major cause of childhood blindness. Treatments could be generic such as gene therapy, retinal or RPE transplantation or the use of growth factors or be more specific guided by knowledge of the underlying disease mechanism, for example biochemical or pharmacological treatments. The effectiveness of novel treatments will need to be assessed in formal randomised trials.

2.3 Visual pathway damage - brain injury associated with perinatal hypoxia is a very common cause of childhood visual impairment that may be due to direct damage to the visual pathway and abnormal brain processing of visual information. Brain injury causing visual impairment may be seen in full term infants but ischaemic brain injury (periventricular laucomalacia) is a very important cause of visual morbidity in pre-term infants where it is a more common cause of visual impairment than retinopathy of prematurity (ROP). The mechanism of brain injury is of interest to paediatricians and obstetricians and this is one area where ophthalmologists should be involved in collaborative multidisciplinary research. There is an urgent need to raise the profile of research in the area of brain injury and visual abnormalities. Research in this area may include correlation of visual function with neuroradiologic abnormalities; visual development in normal and brain damaged infants and the effects of brain injury on oculomotor function. Research relating to neuroprotection and nerve repair will relate to this topic.

2.4 Developmental abnormalities - many developmental abnormalities of the eye such as cataract, glaucoma and anterior segment dysgenesis have a strong genetic component and the identification of the underlying mutations is one research priority. Most developmental eye disorders are not amenable to treatment but two disorders, congenital glaucoma and congenital cataract are treatable and remain the commonest treatable cause of childhood blindness. Treatment however is still problematic; the processes involved in tissue repair, regeneration and scarring play a part in the failure of treatment. Modification of the scarring process can for example improve the outcomes for congenital glaucoma and further research in this area is important not only in childhood disorders but across the whole range of adult ophthalmology - see programme 9.

2.5 Retinopathy of prematurity (ROP) - current priorities for research in this area are:

2.5.1 Investigation of disease mechanisms - much of this overlaps with research into the mechanism of neovascularisation in other disorders such as diabetic retinopathy and retinovascular disease and the mechanism of scarring at the vitreo-retinal interface.

2.5.2 As newer forms of prevention and treatment come on stream for example by modulating the production and /or effect of vascular endothelial growth factors there will be a need for further randomised controlled clinical trials.
2.6. Treatment trials - need to develop imaging techniques applicable to children and infants.

  3. Future development work in the programme during 2002/3

Research priorities

3.1 Epidemiological and Service Issues
· Epidemiology of childhood visual impairment - understanding the extent and the causes of childhood visual impairment
· Effects of childhood visual impairment : educational, emotional and social
· Visual rehabilitation

3.2 Clinical and Laboratory Issues

3.2.1 Inherited eye disease
· identification of disease causing mutations,
· investigation of disease mechanisms,
· development of novel treatment strategies

3.2.2 Brain injury and visual impairment
· multidisciplinary research to understand the mechanism of brain injury
· investigation of visual development and visual performance in brain injured children