Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy
| Autor: | Frank G. Holz, M. Gliem, Philipp Herrmann, Charbel Issa Peter, Johannes Birtel, Kristina Hess, Kristin Raming, Maximilian Pfau |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
medicine.medical_specialty
Visual acuity genetic structures Mesopic vision media_common.quotation_subject Visual Acuity Dark Adaptation Adaptation (eye) Fundus (eye) Ophthalmology medicine Humans Contrast (vision) Prospective Studies Scotopic vision media_common business.industry Cross-Sectional Studies Quality of Life Visual Field Tests Visual Fields medicine.symptom business Microperimetry Photopic vision |
| Zdroj: | American Journal of Ophthalmology. 234:274-284 |
| ISSN: | 0002-9394 |
| DOI: | 10.1016/j.ajo.2021.07.032 |
| Popis: | To elucidate morphological determinants of rod and cone dysfunction in Sorsby fundus dystrophy (SFD), and to systematically compare visual function tests for interventional trials.Prospective cross-sectional study.Patients with SFD (n = 16) and controls (n = 20) underwent visual function testing (best-corrected visual acuity [BCVA] and low luminance visual acuity [LLVA], contrast sensitivity, mesopic and dark-adapted (DA) fundus-controlled perimetry [FCP], rod-mediated dark adaptation [RMDA]), and multimodal imaging. Vision-related quality of life was evaluated. FCP and RMDA thresholds were analyzed using mixed models and structure-function correlation using machine learning (ML). Longitudinal data of 1 patient with high-dose vitamin A supplementation were available.Although photopic BCVA was normative in SFD, LLVA was impaired (0.30 LogMAR [0.20; 0.45] vs 0.20 LogMAR [0.03; 0.28], P.05). Scotopic visual function exhibited a delayed rod-intercept time (21 minutes [12.15; 21] vs 4.05 minutes [3.22; 5.36], P.001), and marked DA cyan mean sensitivity loss (-11.80 dB [-3.47; -19.85]), paralleled by a reduced vision-related quality of life. ML-based structure-function correlation allowed prediction of mesopic, DA cyan, and red sensitivity with high accuracy (cross-validated mean absolute error: 4.36, 7.77, and 5.31 dB, respectively), whereas RMDA could be slowed even in the absence of fundus alterations on multimodal imaging. After high-dose vitamin A supplementation, RMDA and DA thresholds improved markedly.Patients with SFD exhibit severely impaired scotopic visual function even in the absence of funduscopic alterations on multimodal imaging. In contrast to BCVA, scotopic visual function tests are suitable to quantify dysfunction in the early stages. Improvement of scotopic dysfunction after (off-label) high-dose vitamin A intake, as observed in one patient in our study, is compatible with the hypothesized local deficiency of vitamin A secondary to Bruch's membrane alterations. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect