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Mutations in the splicing factor pre-messenger RNA processing factor 31 (PRPF31) gene cause autosomal dominant retinitis pigmentosa 11 (RP11) through a haplo-insufficiency mechanism. We describe the phenotype and progression of microperimetry and autofluorescence endpoints in an Indigenous Australian RP11 family. Ophthalmic examination, optical coherence tomography, fundus autofluorescence and microperimetry were performed at baseline and every 6–12 months. Baseline and annual change in best-corrected visual acuity (BCVA), microperimetry mean sensitivity (MS) and number of scotoma loci, residual ellipsoid zone (EZ) span and hyperautofluorescent ring (HAR) area were reported. Next-generation and Sanger sequencing were performed in available members. 12 affected members from three generations were examined. Mean (SD, range) age at onset of symptoms was 11 (4.5, 4–19) years. MS declined steadily from the third decade and EZ span and HAR area declined rapidly during the second decade. Serial microperimetry showed negligible change in MS over 2–3 years. However, mean EZ span, near-infrared and short-wavelength HAR area reduction was 203 (6.4%) µm/year, 1.8 (8.7%) mm2/year and 1.1 (8.6%) mm2/year, respectively. Genetic testing was performed on 11 affected and 10 asymptomatic members and PRPF31 c.1205 C > A (p.Ser402Ter) mutation was detected in all affected and two asymptomatic members (non-penetrant carriers). Our findings suggest that in the studied cohort, the optimal window for therapeutic intervention is the second decade of life and residual EZ span and HAR area can be considered as efficacy outcome measures. Further studies on larger samples with different PRPF31 mutations and longer follow-up duration are recommended.

This thesis explores the character of women-only substance abuse treatment programs as 'therapeutic landscapes' using qualitative interview and observation methods at two women-only treatment programs. The thesis explores the character of these programs from the perspective of both staff and clients. Not surprisingly, treatment clients had both positive and negative views about various elements of their treatment experience. As such, identifying these sites as 'therapeutic landscapes' requires us to consider how they maintain a structured environment (their core objective) on an ongoing basis, while also being influenced by a wide range of factors. The individual characteristics of staff and clients, staff/client and peer social relations, the surrounding neighbourhood, and the internal and external program environment are factors that shape the ongoing operation of treatment facilities. Further, through them, key tensions arise in the facilitation of the treatment program, which staff needs to consistently try to balance. These tensions arise as programs try to strike a balance between (1) structure and dependence, (2) retreat and reality, (3) individual and collective needs, and (4) homogeneity and diversity. Maintaining a healthy atmosphere and a positive group dynamic therefore requires a wide range of considerations. By studying the core objective of addiction treatment and the factors that influence whether programs achieve this objective we can better understand the ways that environment matters when exploring women-only substance abuse treatment programs as 'therapeutic landscapes'. Master of Arts (MA)