Longitudinal Genotypic and Phenotypic Analysis of Ocular Development and Diseases in Children: A Follow-Up Study Using Handheld OCT Imaging

About the Project

Project:

Understanding how genes shape the development of the human eye from infancy to adolescence is crucial for predicting and preventing childhood ocular diseases. This project will explore the long-term relationship between genetic variants and structural changes in the eye, using advanced handheld optical coherence tomography (OCT) imaging. While most existing studies on paediatric ocular development are cross-sectional, this project takes a longitudinal approach, following children over several years to reveal how genetic and environmental factors interact to influence visual development.

The study will integrate genomic data with OCT-derived measurements of foveal and optic nerve development, which links the identification of genotypic markers to structural and functional visual outcomes. Data collected between 2016 and 2025 from a large paediatric cohort will be re-analysed using cutting-edge bioinformatics and image analysis techniques. Through this approach, the project aims to establish predictive biomarkers for early detection of ocular diseases such as myopia, foveal hypoplasia, and nystagmus.

Beyond its scientific impact, this project has strong clinical significance. By revealing the biological pathways underlying normal and abnormal ocular development, it may guide early screening strategies and personalised interventions for at-risk children. Furthermore, the project bridges clinical ophthalmology, genetics, and artificial intelligence, aligning with the growing demand for interdisciplinary approaches in vision science.

In summary, this research will provide one of the most comprehensive longitudinal datasets linking genotypic and phenotypic ocular information in children. The outcomes will not only expand our understanding of eye development but also contribute to the broader field of precision ophthalmology, offering potential benefits for clinical practice and public health.

Training opportunities:

This project offers training in paediatric ophthalmic imaging, genomic data analysis, and clinical bioinformatics. The student can gain hands-on experience in OCT imaging, data handling, and statistical modelling, as well as training in machine learning tools for image-based biomarker identification. Opportunities will also be provided to present findings at international conferences and to collaborate with multidisciplinary teams across ophthalmology, genetics, and computational biology.

Outputs:

The main outcomes will include peer-reviewed publications describing the longitudinal relationship between genetic variation and ocular development in children, as well as a curated dataset linking genotypic and OCT-based phenotypic data. The findings may also contribute to improved screening strategies for paediatric eye diseases and inform future clinical trials targeting early interventions. In addition, the student will present results at national and international conferences, strengthening collaborations within the vision science community and supporting the translation of research outcomes into clinical and educational practice.