Shah, AA; (2014) An investigation into anterior segment anatomy and genetics of pigment dispersion syndrome. Doctoral thesis , UCL (University College London).

PDF Ameet Shah MD Thesis corrections Sept 2014[1].pdf Available under License : See the attached licence file. Download (2MB)

Abstract

Pigment dispersion syndrome (PDS) is an ocular condition predisposing to glaucomatous optic neuropathy in patients at a relatively young age. Concavity of the iris is considered to be important in the pathogenesis of PDS, however, it is also appears to be a feature of non-PDS eyes, particularly in young myopes. Much of the current understanding of anterior segment anatomy is derived from studies using ultrasound biomicroscopy, a relatively invasive imaging modality that involves direct ocular contact. Anterior-segment optical coherence tomography (AS-OCT) allows imaging of the anterior segment with the patient in the upright position without the need for contact with the ocular surface. AS-OCT may allow a more physiological assessment of anterior segment anatomy as well as being better suited to paediatric subjects. AS-OCT was used to conduct a case-control study of anterior segment anatomy in PDS subjects and age-, sex- and refraction- matched controls to determine which features of anterior segment anatomy best discriminated between the 2 groups. In addition AS-OCT was used to assess anterior segment anatomy, with particular emphasis on iris curvature, in a cohort of 10-12 year old school children and explore correlations with ocular biometry and parameters reflecting corneal biomechanical properties. Longitudinal data was collected through re-visiting the cohort 2 years later. Chromosomal susceptibility loci for PDS have been described, although no causative gene has been identified. Two approaches were used to identify novel disease susceptibility loci: 1) linkage analysis was used in a 3-generation family segregating for PDS/pigmentary glaucoma, and, 2) DNA from a large cohort of unrelated PDS probands was collected and sent for genotyping with a view to conducting a pilot genome-wide association study. Finally a candidate gene, GPNMB, the human homologue of a causative gene in a mouse model of pigmentary glaucoma was sequenced in a panel of 96 unrelated PDS/pigmentary glaucoma subjects.

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