Midterm seminar at the PhD programme in Person, Health and Society for the PhD candidate Arjana Alihodzic

Myopia is a refractive error characterised by blurred distance vision, most commonly occurring when the eye grows too long. Axial elongation in myopia is the main reason for the increased risk of secondary ocular pathology and irreversible visual impairment later in life. There are significant differences in myopia prevalence across different regions of the world. While some Asian countries report very high rates among adolescents (60–80%), the Nordic countries have shown relatively low and stable prevalence (<20%).

Myopia development is influenced by both environmental and genetic factors. In myopia, eye growth becomes dysregulated, preventing the eye from reaching or maintaining emmetropia. Ocular growth is regulated locally in the retina, where photoreceptors constitute the first step in the signalling cascade. Humans have three types of cone photoreceptors encoded by opsin genes. The OPN1LW and OPN1MW genes, located on the X chromosome in a tandem array, show high copy number variation. Polymorphisms in these genes have previously been associated with high myopia, and more recently with common myopia as well.

This PhD project addresses a knowledge gap in opsin gene array analysis, and provides insight into heterozygous females, a group that is underrepresented in the literature, by applying a combination of computational approaches and long-read sequencing methods.

• Main supervisor: Professor Rigmor Baraas, USN
• Co-supervisor(s): Guest researcher Lene Aarvelta Hagen, USN, Associate Professor Stuart Gilson, USN, Professor Maureen Neitz, University of Washington, USA
• External evaluator: Professor Jeremy Guggenheim, Cardiff University, UK
• Internal evaluator: Associate Professor Mona Sæbø, USN
• Seminar leader: Professor Mirjam Lukasse, USN