| Autor: |
Danial, Roshandel, Jennifer A, Thompson, Jason, Charng, Dan, Zhang, Enid, Chelva, Sukanya, Arunachalam, Mary S, Attia, Tina M, Lamey, Terri L, McLaren, John N, De Roach, David A, Mackey, Steve D, Wilton, Sue, Fletcher, Samuel, McLenachan, Fred K, Chen |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Ophthalmic genetics. 42(1) |
| ISSN: |
1744-5094 |
| Popis: |
Mutations in the splicing factor pre-messenger RNA processing factor 31 (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%) mmOur 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 |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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