Journal article
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy
Ophthalmic Genetics, pp.1-14
2020
Abstract
Background
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.
Patients and Methods
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.
Results
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).
Conclusions
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.
Details
- Title
- Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy
- Authors/Creators
- D. Roshandel (Author/Creator) - The University of Western AustraliaJ.A. Thompson (Author/Creator) - Sir Charles Gairdner HospitalJ. Charng (Author/Creator) - Lions Eye InstituteD. Zhang (Author/Creator) - The University of Western AustraliaE. Chelva (Author/Creator) - Sir Charles Gairdner HospitalS. Arunachalam (Author/Creator) - The University of Western AustraliaM.S. Attia (Author/Creator) - The University of Western AustraliaT.M. Lamey (Author/Creator) - The University of Western AustraliaT.L. McLaren (Author/Creator) - The University of Western AustraliaJ.N. De Roach (Author/Creator) - The University of Western AustraliaD.A. Mackey (Author/Creator) - Lions Eye InstituteS.D. Wilton (Author/Creator) - Murdoch UniversityS. Fletcher (Author/Creator) - Murdoch UniversityS. McLenachan (Author/Creator) - The University of Western AustraliaF.K. Chen (Author/Creator) - The University of Western Australia
- Publication Details
- Ophthalmic Genetics, pp.1-14
- Publisher
- Taylor & Francis
- Identifiers
- 991005543566907891
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.36 Ophthalmology
- 1.36.212 Genetic Retinopathies
- Web Of Science research areas
- Genetics & Heredity
- Ophthalmology
- ESI research areas
- Clinical Medicine